-
1
-
-
0027259193
-
Variants of glucose-6-phosphate dehydrogenase are due to mis sense mutations spread throughout the coding region of the gene
-
1. Vulliamy T, Beutler E, Luzzatto L. Variants of glucose-6-phosphate dehydrogenase are due to mis sense mutations spread throughout the coding region of the gene. Hum Mutat 2:159-167, 1993.
-
(1993)
Hum Mutat
, vol.2
, pp. 159-167
-
-
Vulliamy, T.1
Beutler, E.2
Luzzatto, L.3
-
2
-
-
0027940492
-
G6PD deficiency
-
2. Beutler E. G6PD deficiency. Blood 84:3613-3636, 1994.
-
(1994)
Blood
, vol.84
, pp. 3613-3636
-
-
Beutler, E.1
-
3
-
-
0001585429
-
Glucose 6-phosphate dehydrogenase deficiency
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill, Inc.
-
3. Luzzatto L, Mehta A. Glucose 6-phosphate dehydrogenase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, Inc., 3367, 1995.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3367
-
-
Luzzatto, L.1
Mehta, A.2
-
4
-
-
0029661511
-
Hematologically important mutations: Glucose-6-phosphate dehydrogenase
-
4. Beutler E, Vulliamy T, Luzzatto L. Hematologically important mutations: Glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis 22:49-56, 1996.
-
(1996)
Blood Cells Mol Dis
, vol.22
, pp. 49-56
-
-
Beutler, E.1
Vulliamy, T.2
Luzzatto, L.3
-
6
-
-
0026042503
-
A to G substitution identified in exon 2 of the G6PD gene among G6PD deficient Chinese
-
6. Chao L, Du C-S, Louie E, et al. A to G substitution identified in exon 2 of the G6PD gene among G6PD deficient Chinese. Nucleic Acids Res 19:6056, 1991.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 6056
-
-
Chao, L.1
Du, C.-S.2
Louie, E.3
-
7
-
-
0028965912
-
Molecular analysis of glucose-6-phosphate dehydrogenase variants in the Solomon Islands
-
7. Hirono A, Ishii A, Kere N, Fujii H, Hirono K, Miwa S. Molecular analysis of glucose-6-phosphate dehydrogenase variants in the Solomon Islands. Am J Hum Genet 56:1243-1245, 1995.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1243-1245
-
-
Hirono, A.1
Ishii, A.2
Kere, N.3
Fujii, H.4
Hirono, K.5
Miwa, S.6
-
8
-
-
0025764346
-
Deficiency in red blood cells
-
8. MacDonald D, Town M, Mason P, Vulliamy T, Luzzatto L, Goff DK. Deficiency in red blood cells. Nature 350:115, 1991.
-
(1991)
Nature
, vol.350
, pp. 115
-
-
MacDonald, D.1
Town, M.2
Mason, P.3
Vulliamy, T.4
Luzzatto, L.5
Goff, D.K.6
-
10
-
-
0028880761
-
A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala→Gly), is the major polymorphic variant in tribal populations in India
-
10. Kaeda JS, Chhotray GP, Ranjit MR, et al. A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala→Gly), is the major polymorphic variant in tribal populations in India. Am J Hum Genet 57:1335-1341, 1995.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1335-1341
-
-
Kaeda, J.S.1
Chhotray, G.P.2
Ranjit, M.R.3
-
11
-
-
0027537149
-
G6PD Aures: A new mutation (48 Ile→Thr) causing mild G6PD deficiency is associated with favism
-
11. Nafa K, Reghis A, Osmani N, et al. G6PD Aures: A new mutation (48 Ile→Thr) causing mild G6PD deficiency is associated with favism. Hum Mol Genet 2:81-82, 1993.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 81-82
-
-
Nafa, K.1
Reghis, A.2
Osmani, N.3
-
12
-
-
0011063810
-
-
Unpublished
-
12. Hirono A. Unpublished 1995.
-
(1995)
-
-
Hirono, A.1
-
13
-
-
0344985724
-
Diverse point mutations in the human glucose 6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia
-
13. Vulliamy TJ, D'Urso M, Battistuzzi G, et al. Diverse point mutations in the human glucose 6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. Proc Natl Acad Sci USA 85:5171-5175, 1988.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 5171-5175
-
-
Vulliamy, T.J.1
D'Urso, M.2
Battistuzzi, G.3
-
14
-
-
0030925041
-
Molecular analysis of eight biochemically unique glucose-6-phosphate dehydrogenase variants found in Japan
-
14. Hirono A, Fujii H, Takano T, Chiba Y, Azuno Y, Miwa S. Molecular analysis of eight biochemically unique glucose-6-phosphate dehydrogenase variants found in Japan. Blood 89:4624-4627, 1997.
-
(1997)
Blood
, vol.89
, pp. 4624-4627
-
-
Hirono, A.1
Fujii, H.2
Takano, T.3
Chiba, Y.4
Azuno, Y.5
Miwa, S.6
-
15
-
-
0004497053
-
Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-)
-
15. Hirono A, Beutler E. Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). Proc Natl Acad Sci USA 85:3951-3954, 1988.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 3951-3954
-
-
Hirono, A.1
Beutler, E.2
-
16
-
-
0025974411
-
Some Mexican glucose-6-phosphate dehydrogenase (G-6-PD) variants revisited
-
16. Beutler E, Kuhl W, Ramirez E, Lisker R. Some Mexican glucose-6-phosphate dehydrogenase (G-6-PD) variants revisited. Hum Genet 86:371-374, 1991.
-
(1991)
Hum Genet
, vol.86
, pp. 371-374
-
-
Beutler, E.1
Kuhl, W.2
Ramirez, E.3
Lisker, R.4
-
18
-
-
0024455091
-
Molecular heterogeneity of G6PD A-
-
18. Beutler E, Kuhl W, Vives-Corrons J-L, Prchal JT. Molecular heterogeneity of G6PD A-. Blood 74:2550-2555, 1989.
-
(1989)
Blood
, vol.74
, pp. 2550-2555
-
-
Beutler, E.1
Kuhl, W.2
Vives-Corrons, J.-L.3
Prchal, J.T.4
-
19
-
-
0028098230
-
G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype
-
19. Cappellini MD, Sampietro M, Toniolo D, et al. G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype. Hum Genet 93:139-142, 1994.
-
(1994)
Hum Genet
, vol.93
, pp. 139-142
-
-
Cappellini, M.D.1
Sampietro, M.2
Toniolo, D.3
-
20
-
-
0028143967
-
At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria
-
20. Nafa K, Reghis A, Osmani N, et al. At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria. Hum Genet 94:513-517, 1994.
-
(1994)
Hum Genet
, vol.94
, pp. 513-517
-
-
Nafa, K.1
Reghis, A.2
Osmani, N.3
-
21
-
-
0028885341
-
Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific)
-
21. Ganczakowski M, Town M, Bowden DK, et al. Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific). Am J Hum Genet 56:294-301, 1995.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 294-301
-
-
Ganczakowski, M.1
Town, M.2
Bowden, D.K.3
-
22
-
-
0029021237
-
Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain: Identification of two new point mutations in the G6PD gene
-
22. Rovira A, Vulliamy T, Pujades MA, Luzzatto L, Corrons JLV. Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain: Identification of two new point mutations in the G6PD gene. Br J Haematol 91:66-71, 1995.
-
(1995)
Br J Haematol
, vol.91
, pp. 66-71
-
-
Rovira, A.1
Vulliamy, T.2
Pujades, M.A.3
Luzzatto, L.4
Corrons, J.L.V.5
-
23
-
-
0028919034
-
New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia
-
23. Mason PJ, Sonati ME, MacDonald D, et al. New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia. Blood 85:1377-1380, 1995.
-
(1995)
Blood
, vol.85
, pp. 1377-1380
-
-
Mason, P.J.1
Sonati, M.E.2
MacDonald, D.3
-
24
-
-
0027250301
-
Molecular abnormality of G6PD Konan and G6PD Ube, the most common glucose-6-phosphate dehydrogenase variants in Japan
-
24. Hirono A, Fujii H, Miwa S. Molecular abnormality of G6PD Konan and G6PD Ube, the most common glucose-6-phosphate dehydrogenase variants in Japan. Hum Genet 91:507-508, 1993.
-
(1993)
Hum Genet
, vol.91
, pp. 507-508
-
-
Hirono, A.1
Fujii, H.2
Miwa, S.3
-
25
-
-
0027202606
-
Molecular analysis of G6PD variants in northern Italy: A study on the population from the Ferrara district
-
25. Ninfali P, Baronciani L, Ruzzo A, et al. Molecular analysis of G6PD variants in northern Italy: A study on the population from the Ferrara district. Hum Genet 92:139-142, 1993.
-
(1993)
Hum Genet
, vol.92
, pp. 139-142
-
-
Ninfali, P.1
Baronciani, L.2
Ruzzo, A.3
-
26
-
-
0028959103
-
Identification of two novel deletion mutations in glucose-6-phosphate dehydrogenase gene causing hemolytic anemia
-
26. Hirono A, Fujii H, Miwa S. Identification of two novel deletion mutations in glucose-6-phosphate dehydrogenase gene causing hemolytic anemia. Blood 85:1118-1121, 1995.
-
(1995)
Blood
, vol.85
, pp. 1118-1121
-
-
Hirono, A.1
Fujii, H.2
Miwa, S.3
-
27
-
-
0026655456
-
Molecular abnormalities of a human glucose-6-phosphate dehydrogenase variant associated with undetectable enzyme activity and immunologically cross-reacting material
-
27. Maeda M, Constantoulakis P, Chen C-S, Stamatoyannopoulos G, Yoshida A. Molecular abnormalities of a human glucose-6-phosphate dehydrogenase variant associated with undetectable enzyme activity and immunologically cross-reacting material. Am J Hum Genet 51:386-395, 1992.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 386-395
-
-
Maeda, M.1
Constantoulakis, P.2
Chen, C.-S.3
Stamatoyannopoulos, G.4
Yoshida, A.5
-
29
-
-
0027547019
-
Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) variants from Brazil
-
29. Weimer TA, Salzano FM, Westwood B, Beutler E. Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) variants from Brazil. Hum Biol 65:41-47, 1993.
-
(1993)
Hum Biol
, vol.65
, pp. 41-47
-
-
Weimer, T.A.1
Salzano, F.M.2
Westwood, B.3
Beutler, E.4
-
30
-
-
0023446213
-
A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A(+)
-
30. Takizawa T, Yoneyama Y, Miwa S, Yoshida A. A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A(+). Genomics 1:228-231, 1987.
-
(1987)
Genomics
, vol.1
, pp. 228-231
-
-
Takizawa, T.1
Yoneyama, Y.2
Miwa, S.3
Yoshida, A.4
-
31
-
-
0027468461
-
Molecular characterization of glucose-6-phosphate dehydro-genase (G6PD) deficiency in patients of Chinese descent and identification of new base substitutions in the human G6PD gene
-
31. Chiu DTY, Zuo L, Chao L, et al. Molecular characterization of glucose-6-phosphate dehydro-genase (G6PD) deficiency in patients of Chinese descent and identification of new base substitutions in the human G6PD gene. Blood 81:2150-2154, 1993.
-
(1993)
Blood
, vol.81
, pp. 2150-2154
-
-
Chiu, D.T.Y.1
Zuo, L.2
Chao, L.3
-
33
-
-
4244036414
-
Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain
-
33. Vives Corrons JL, Aymerich M, Carrera A, et al. Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain. Blood 88(Suppl 1):7b, 1996.
-
(1996)
Blood
, vol.88
, Issue.SUPPL. 1
-
-
Vives Corrons, J.L.1
Aymerich, M.2
Carrera, A.3
-
34
-
-
0024360344
-
G6PD Mahidol, a common deficient variant in South East Asia is caused by a (163)grycine→serine mutation
-
34. Vulliamy TJ, Wanachiwanawin W, Mason PJ, Luzzatto L. G6PD Mahidol, a common deficient variant in South East Asia is caused by a (163)grycine→serine mutation. Nucleic Acids Res 17:5868, 1989.
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 5868
-
-
Vulliamy, T.J.1
Wanachiwanawin, W.2
Mason, P.J.3
Luzzatto, L.4
-
35
-
-
0028057464
-
Expression and biochemical characterization of human glucose-6-phosphate dehydrogenase in Escherichia coli: A system to analyze normal and mutant enzymes
-
35. Tang TK, Yeh C-H, Huang C-S, Huang M-J. Expression and biochemical characterization of human glucose-6-phosphate dehydrogenase in Escherichia coli: A system to analyze normal and mutant enzymes. Blood 83:1436-1441, 1994.
-
(1994)
Blood
, vol.83
, pp. 1436-1441
-
-
Tang, T.K.1
Yeh, C.-H.2
Huang, C.-S.3
Huang, M.-J.4
-
36
-
-
0003370206
-
G6PD Volendam: De Novo mutation of unusual mechanism in a severly deficient Dutch female born to apparently normal parents
-
36. Khan PM, Ploem JE, Wijnen JT, Breukel C, Korthof G, Weening RS. G6PD Volendam: De Novo mutation of unusual mechanism in a severly deficient Dutch female born to apparently normal parents. 7th International Congress of Human Genetics 418a, 1986.
-
(1986)
7th International Congress of Human Genetics
, vol.418 A
-
-
Khan, P.M.1
Ploem, J.E.2
Wijnen, J.T.3
Breukel, C.4
Korthof, G.5
Weening, R.S.6
-
37
-
-
0029884274
-
G6PD NanKang (517T→C; 173Phe→Leu): A new Chinese G6PD variant associated with neonatal jaundice
-
37. Chen HL, Huang MJ, Huang CS, Tang TK. G6PD NanKang (517T→C; 173Phe→Leu): A new Chinese G6PD variant associated with neonatal jaundice. Hum Hered 46:201-204, 1996.
-
(1996)
Hum Hered
, vol.46
, pp. 201-204
-
-
Chen, H.L.1
Huang, M.J.2
Huang, C.S.3
Tang, T.K.4
-
38
-
-
0003316676
-
Structural and functional analysis of Chinese G6PD mutations on the basis of a three dimensional structural model of human enzyme
-
38. Tang TK, Chen H-L, Tzou W-S, Huang M-J. Structural and functional analysis of Chinese G6PD mutations on the basis of a three dimensional structural model of human enzyme. Blood 88(Suppl 1):307a, 1996.
-
(1996)
Blood
, vol.88
, Issue.SUPPL. 1
-
-
Tang, T.K.1
Chen, H.-L.2
Tzou, W.-S.3
Huang, M.-J.4
-
39
-
-
0028339178
-
Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by non-radioisotopic single-strand conformation polymorphism analysis
-
39. Hirono A, Miwa S, Fujii H, Ishida F, Yamada K, Kubota K. Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by non-radioisotopic single-strand conformation polymorphism analysis. Blood 83:3363-3368, 1994.
-
(1994)
Blood
, vol.83
, pp. 3363-3368
-
-
Hirono, A.1
Miwa, S.2
Fujii, H.3
Ishida, F.4
Yamada, K.5
Kubota, K.6
-
40
-
-
0011116626
-
-
Unpublished
-
40. Hirono A. Unpublished 1994.
-
(1994)
-
-
Hirono, A.1
-
41
-
-
0029803255
-
Independent origin of single and double mutations in the human glucose-6-phosphate dehydrogenase gene
-
41. Vulliamy T, Rovira A, Yusoff N, Colomer D, Luzzatto L, Vives-Corrons JL. Independent origin of single and double mutations in the human glucose-6-phosphate dehydrogenase gene. Hum Mutat 8:311-318, 1996.
-
(1996)
Hum Mutat
, vol.8
, pp. 311-318
-
-
Vulliamy, T.1
Rovira, A.2
Yusoff, N.3
Colomer, D.4
Luzzatto, L.5
Vives-Corrons, J.L.6
-
42
-
-
0025871176
-
Mutation analysis of G6PD variants in Costa Rica
-
42. Beutler E, Kuhl W, Sáenz GF, Rodriguez W. Mutation analysis of G6PD variants in Costa Rica. Hum Genet 87:462-464, 1991.
-
(1991)
Hum Genet
, vol.87
, pp. 462-464
-
-
Beutler, E.1
Kuhl, W.2
Sáenz, G.F.3
Rodriguez, W.4
-
43
-
-
0025203513
-
The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia
-
43. Beutler E, Kuhl W. The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. Am J Hum Genet 47:1008-1012, 1990.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 1008-1012
-
-
Beutler, E.1
Kuhl, W.2
-
44
-
-
0024493798
-
Two point mutations are responsible for G6PD polymorphism in Sardinia
-
44. De Vita G, Alcalay M, Sampietro M, Cappellini MD, Fiorelli G, Toniolo D. Two point mutations are responsible for G6PD polymorphism in Sardinia. Am J Hum Genet 44:233-240, 1989.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 233-240
-
-
De Vita, G.1
Alcalay, M.2
Sampietro, M.3
Cappellini, M.D.4
Fiorelli, G.5
Toniolo, D.6
-
45
-
-
0026603606
-
Molecular heterogeneity underlying the G6PD Mediterranean phenotype
-
45. Corcoran CM, Calabrò V, Tamagnini G, et al. Molecular heterogeneity underlying the G6PD Mediterranean phenotype. Hum Genet 88:688-690, 1992.
-
(1992)
Hum Genet
, vol.88
, pp. 688-690
-
-
Corcoran, C.M.1
Calabrò, V.2
Tamagnini, G.3
-
46
-
-
0003205849
-
Molecular characterization of G6PD deficiency in patients of Chinese descent and identification of a new base substitution in the human G6PD gene
-
46. Du CS, Chao LT, Louie E, Liu TZ, Chiu DTY. Molecular characterization of G6PD deficiency in patients of Chinese descent and identification of a new base substitution in the human G6PD gene. Blood 80 (Suppl 1):284a, 1992.
-
(1992)
Blood
, vol.80
, Issue.SUPPL. 1
-
-
Du, C.S.1
Chao, L.T.2
Louie, E.3
Liu, T.Z.4
Chiu, D.T.Y.5
-
47
-
-
0026766491
-
New glucose-6-phosphate dehydrogenase mutations from various ethnic groups
-
47. Beutler E, Westwood B, Prchal J, Vaca G, Bartsocas CS, Baronciani L. New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. Blood 80:255-256, 1992.
-
(1992)
Blood
, vol.80
, pp. 255-256
-
-
Beutler, E.1
Westwood, B.2
Prchal, J.3
Vaca, G.4
Bartsocas, C.S.5
Baronciani, L.6
-
48
-
-
0027520218
-
Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis
-
48. Calabrò V, Mason PJ, Filosa S, et al. Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis. Am J Hum Genet 52:527-536, 1993.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 527-536
-
-
Calabrò, V.1
Mason, P.J.2
Filosa, S.3
-
49
-
-
0025763140
-
DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants
-
49. Beutler E, Kuhl W, Gelbart T, Forman L. DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants. J Biol Chem 266:4145-4150, 1991.
-
(1991)
J Biol Chem
, vol.266
, pp. 4145-4150
-
-
Beutler, E.1
Kuhl, W.2
Gelbart, T.3
Forman, L.4
-
50
-
-
0026357097
-
Definition of the mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu and G6PD "LeJeune"
-
50. Beutler E, Prchal JT, Westwood B, Kuhl W. Definition of the mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu and G6PD "LeJeune". Acta Haematol (Basel) 86:119-182, 1991.
-
(1991)
Acta Haematol (Basel)
, vol.86
, pp. 119-182
-
-
Beutler, E.1
Prchal, J.T.2
Westwood, B.3
Kuhl, W.4
-
51
-
-
0025165882
-
Identification of a single base change in a new human mutant glucose-6-phosphate dehydrogenase gene by polymerase-chain-reaction amplification of the entire coding region from genomic DNA
-
51. Poggi V, Town M, Foulkes NS, Luzzatto L. Identification of a single base change in a new human mutant glucose-6-phosphate dehydrogenase gene by polymerase-chain-reaction amplification of the entire coding region from genomic DNA. Biochem J 271:157-160, 1990.
-
(1990)
Biochem J
, vol.271
, pp. 157-160
-
-
Poggi, V.1
Town, M.2
Foulkes, N.S.3
Luzzatto, L.4
-
54
-
-
4244158503
-
G6PD Durham: A de novo mutation associated with chronic hemolytic anemia
-
54. Zimmerman S, Ware RE, Forman L, Westwood B, Beutler E. G6PD Durham: A de novo mutation associated with chronic hemolytic anemia. Blood 88(Suppl 1):307a, 1996.
-
(1996)
Blood
, vol.88
, Issue.SUPPL. 1
-
-
Zimmerman, S.1
Ware, R.E.2
Forman, L.3
Westwood, B.4
Beutler, E.5
-
55
-
-
0028852395
-
Glucose-6 phosphate dehydrogenase mutations and haplotypes in various ethnic groups
-
55. Xu W, Westwood B, Bartsocas CS, Malcorra-Azpiazu JJ, Indrák K, Beutler E. Glucose-6 phosphate dehydrogenase mutations and haplotypes in various ethnic groups. Blood 85:257-263, 1995.
-
(1995)
Blood
, vol.85
, pp. 257-263
-
-
Xu, W.1
Westwood, B.2
Bartsocas, C.S.3
Malcorra-Azpiazu, J.J.4
Indrák, K.5
Beutler, E.6
-
56
-
-
0014990979
-
A new glucose-6-phosphate dehydrogenase variant (G6PD Port-Royal)
-
56. Kaplan JC, Hanlickova-Leroux A, Nicholas AM, Rosa R, Weiler C, Lepercq G. A new glucose-6-phosphate dehydrogenase variant (G6PD Port-Royal). Enzyme 12:25-32, 1970.
-
(1970)
Enzyme
, vol.12
, pp. 25-32
-
-
Kaplan, J.C.1
Hanlickova-Leroux, A.2
Nicholas, A.M.3
Rosa, R.4
Weiler, C.5
Lepercq, G.6
-
57
-
-
0015070550
-
Metachromasia and assay for lysosomal enzymes in skin fibroblasts cultured from patients with cystic fibrosis and controls
-
57. Kraus I, Antonowicz I, Shah H, Lazarus H, Shwachman H. Metachromasia and assay for lysosomal enzymes in skin fibroblasts cultured from patients with cystic fibrosis and controls. Pediatrics 47:1010-1018, 1971.
-
(1971)
Pediatrics
, vol.47
, pp. 1010-1018
-
-
Kraus, I.1
Antonowicz, I.2
Shah, H.3
Lazarus, H.4
Shwachman, H.5
-
58
-
-
0026591865
-
Glucose-6-phosphate dehydrogenase variants in Hawaii
-
58. Beutler E, Westwood B, Kuhl W, Hsia YE. Glucose-6-phosphate dehydrogenase variants in Hawaii. Hum Hered 42:327-329, 1992.
-
(1992)
Hum Hered
, vol.42
, pp. 327-329
-
-
Beutler, E.1
Westwood, B.2
Kuhl, W.3
Hsia, Y.E.4
-
59
-
-
0026406803
-
844C: A study on its expression in blood cells and muscle
-
844C: A study on its expression in blood cells and muscle. Enzyme 45:180-187, 1991.
-
(1991)
Enzyme
, vol.45
, pp. 180-187
-
-
Ninfali, P.1
Bresolin, N.2
Baronciani, L.3
-
60
-
-
0028263847
-
-
60. Cappellini MD, Sampietro M, Toniolo D, et al. Biochemical and molecular characterization of a new sporadic glucose-6-phosphate dehydrogenase variant described in Italy: G6PD Modena. Br J Haematol 87:209-211, 1994.
-
(1994)
Br J Haematol
, vol.87
, pp. 209-211
-
-
Cappellini, M.D.1
Sampietro, M.2
Toniolo, D.3
-
61
-
-
0028956065
-
Molecular characterisation of the glucose-6-phosphate dehydrogenase (G6PD) Ferrara II variant
-
61. Cappellini MD, Martinez di Montemuros F, Dotti C, Tavazzi D, Fiorelli G. Molecular characterisation of the glucose-6-phosphate dehydrogenase (G6PD) Ferrara II variant. Hum Genet 95:440-442, 1995.
-
(1995)
Hum Genet
, vol.95
, pp. 440-442
-
-
Cappellini, M.D.1
Martinez Di Montemuros, F.2
Dotti, C.3
Tavazzi, D.4
Fiorelli, G.5
-
62
-
-
0028141418
-
Molecular and biochemical data on some glucose-6-phosphate dehydrogenase variants from Southern Sardinia
-
62. Frigerio R, Sole G, Lovicu M, Passiu G. Molecular and biochemical data on some glucose-6-phosphate dehydrogenase variants from Southern Sardinia. Haematologica 79:319-321, 1994.
-
(1994)
Haematologica
, vol.79
, pp. 319-321
-
-
Frigerio, R.1
Sole, G.2
Lovicu, M.3
Passiu, G.4
-
63
-
-
0015334865
-
Glucose-6-phosphate dehydrogenase Mexico. A new variant with enzyme deficiency, abnormal mobility and absence of hemolysis
-
63. Lisker R, Linares C, Motulsky AG. Glucose-6-phosphate dehydrogenase Mexico. A new variant with enzyme deficiency, abnormal mobility and absence of hemolysis. J Lab Clin Med 79:788-793, 1972.
-
(1972)
J Lab Clin Med
, vol.79
, pp. 788-793
-
-
Lisker, R.1
Linares, C.2
Motulsky, A.G.3
-
65
-
-
0025055118
-
Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population: Biochemical and molecular characterization
-
65. Viglietto G, Montanaro V, Calabrò V, et al. Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population: Biochemical and molecular characterization. Ann Hum Genet 54:1-15, 1990.
-
(1990)
Ann Hum Genet
, vol.54
, pp. 1-15
-
-
Viglietto, G.1
Montanaro, V.2
Calabrò, V.3
-
66
-
-
0011126828
-
-
Unpublished
-
66. Hirono A. Unpublished 1996.
-
(1996)
-
-
Hirono, A.1
-
68
-
-
0026879380
-
G6PD Kalyan and G6PD Kerala; two deficient variants in India caused by the same 317 Glu→Lys mutation
-
68. Ahluwalia A, Corcoran CM, Vulliamy TJ, et al. G6PD Kalyan and G6PD Kerala; two deficient variants in India caused by the same 317 Glu→Lys mutation. Hum Mol Genet 1:209-210, 1992.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 209-210
-
-
Ahluwalia, A.1
Corcoran, C.M.2
Vulliamy, T.J.3
-
70
-
-
0027331492
-
G6PD Nara: A new class l glucose-6-phosphate dehydrogenase variant with an eight amino acid deletion
-
70. Hirono A, Fujii H, Shima M, Miwa S. G6PD Nara: A new class l glucose-6-phosphate dehydrogenase variant with an eight amino acid deletion. Blood 82:3250-3252, 1993.
-
(1993)
Blood
, vol.82
, pp. 3250-3252
-
-
Hirono, A.1
Fujii, H.2
Shima, M.3
Miwa, S.4
-
72
-
-
0011065027
-
-
Unpublished
-
72. Goncalves P. Unpublished 1996.
-
(1996)
-
-
Goncalves, P.1
-
73
-
-
15844386537
-
Multiple G6PD mutations are associated with a clinical and biochemical phenotype similar to that of G6PD mediterranean
-
73. Cappellini MD, Di Montemuros FM, De Bellis G, Debernardi S, Dotti C, Fiorelli G. Multiple G6PD mutations are associated with a clinical and biochemical phenotype similar to that of G6PD mediterranean. Blood 87:3953-3958, 1996.
-
(1996)
Blood
, vol.87
, pp. 3953-3958
-
-
Cappellini, M.D.1
Di Montemuros, F.M.2
De Bellis, G.3
Debernardi, S.4
Dotti, C.5
Fiorelli, G.6
-
75
-
-
0029003588
-
Three new exon 10 glucose-6-phosphate dehydrogenase mutations
-
75. Beutler E, Westwood B, Melemed A, Dal Borgo P, Margolis D. Three new exon 10 glucose-6-phosphate dehydrogenase mutations. Blood Cells Mol Dis 21:64-72, 1995.
-
(1995)
Blood Cells Mol Dis
, vol.21
, pp. 64-72
-
-
Beutler, E.1
Westwood, B.2
Melemed, A.3
Dal Borgo, P.4
Margolis, D.5
-
77
-
-
0011064802
-
G6PD Mt. Sinai. A new severe hemolytic variant characterized by dual mutations at nucleotides 376 and 1159
-
77. Vlachos A, Westwood B, Lipton JM, Beutler E. G6PD Mt. Sinai. A new severe hemolytic variant characterized by dual mutations at nucleotides 376 and 1159. Hum Mutat In press: 1997.
-
(1997)
Hum Mutat In Press
-
-
Vlachos, A.1
Westwood, B.2
Lipton, J.M.3
Beutler, E.4
-
80
-
-
0028039121
-
A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia
-
80. Filosa S, Cai W, Galanello R, et al. A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia. Hum Genet 94:560-562, 1994.
-
(1994)
Hum Genet
, vol.94
, pp. 560-562
-
-
Filosa, S.1
Cai, W.2
Galanello, R.3
-
82
-
-
0026513093
-
Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia
-
82. Hirono A, Fujii H, Hirono K, Kanno H, Miwa S. Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia. Hum Genet 88:347-348, 1992.
-
(1992)
Hum Genet
, vol.88
, pp. 347-348
-
-
Hirono, A.1
Fujii, H.2
Hirono, K.3
Kanno, H.4
Miwa, S.5
-
83
-
-
0028218784
-
Molecular abnormality of a unique Japanese glucose-6-phosphate dehydrogenase variant (G6PD Kobe) with a greatly increased affinity for galactose-6-phosphate
-
83. Hirono A, Nakayama S, Fujii H, Miwa S. Molecular abnormality of a unique Japanese glucose-6-phosphate dehydrogenase variant (G6PD Kobe) with a greatly increased affinity for galactose-6-phosphate. Am J Hematol 45:185-186, 1994.
-
(1994)
Am J Hematol
, vol.45
, pp. 185-186
-
-
Hirono, A.1
Nakayama, S.2
Fujii, H.3
Miwa, S.4
-
84
-
-
0027440263
-
Frequency of glucose-6-phosphate dehydrogenase (G6PD) mutations in Chinese, Filipinos, and Laotians from Hawaii
-
84. Hsia YE, Miyakawa F, Baltazar J, et al. Frequency of glucose-6-phosphate dehydrogenase (G6PD) mutations in Chinese, Filipinos, and Laotians from Hawaii. Hum Genet 92:470-476, 1993.
-
(1993)
Hum Genet
, vol.92
, pp. 470-476
-
-
Hsia, Y.E.1
Miyakawa, F.2
Baltazar, J.3
-
85
-
-
4244036411
-
Diverse point mutations of glucose-6-phosphate dehydrogenase (G6PD) gene in Spanish and Cuban patients with hemolytic anaemia
-
85. Vives Corrons JL, Rovira A, Pujades MA, Estrada M, Vulliamy TJ. Diverse point mutations of glucose-6-phosphate dehydrogenase (G6PD) gene in Spanish and Cuban patients with hemolytic anaemia. La Revista de Investigacion Clinica 46(Suppl):234a, 1994.
-
(1994)
La Revista de Investigacion Clinica
, vol.46
, Issue.SUPPL.
-
-
Vives Corrons, J.L.1
Rovira, A.2
Pujades, M.A.3
Estrada, M.4
Vulliamy, T.J.5
-
86
-
-
0026879447
-
A novel C to T substitution at nucleotide 1360 of cDNA which abolishes a natural Hha I site accounts for a new G6PD deficiency gene in Chinese
-
86. Perng L-I, Chiou S-S, Liu T-C, Chang J-G. A novel C to T substitution at nucleotide 1360 of cDNA which abolishes a natural Hha I site accounts for a new G6PD deficiency gene in Chinese. Hum Mol Genet 1:205, 1992.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 205
-
-
Perng, L.-I.1
Chiou, S.-S.2
Liu, T.-C.3
Chang, J.-G.4
-
88
-
-
0025605094
-
G6PD Canton a common deficient variant in South East Asia caused by a 459 Arg→Leu mutation
-
88. Stevens DJ, Wanachiwanawin W, Mason PJ, Vulliamy TJ, Luzzatto L. G6PD Canton a common deficient variant in South East Asia caused by a 459 Arg→Leu mutation. Nucleic Acids Res 18:7190, 1990.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 7190
-
-
Stevens, D.J.1
Wanachiwanawin, W.2
Mason, P.J.3
Vulliamy, T.J.4
Luzzatto, L.5
-
89
-
-
0025831075
-
Two commonly occurring nucleotide base substitutions in Chinese G6PD variants
-
89. Chiu DTY, Zuo L, Chen E, et al. Two commonly occurring nucleotide base substitutions in Chinese G6PD variants. Biochem Biophys Res Commun 180: 988-993, 1991.
-
(1991)
Biochem Biophys Res Commun
, vol.180
, pp. 988-993
-
-
Chiu, D.T.Y.1
Zuo, L.2
Chen, E.3
-
91
-
-
0030157844
-
Glucose-6-phosphate dehydrogenase deficiency mutations in Papua New Guinea
-
91. Wagner G, Bhatia K, Board P. Glucose-6-phosphate dehydrogenase deficiency mutations in Papua New Guinea. Hum Biol 68:383-394, 1996.
-
(1996)
Hum Biol
, vol.68
, pp. 383-394
-
-
Wagner, G.1
Bhatia, K.2
Board, P.3
-
92
-
-
0019517469
-
Glucose-6-phosphate dehydrogenase variants: A unique variant (G6PD Kobe) showed an extremely increased affinity for galactose 6-phosphate and a new variant (G6PD Sapporo) resembling G6PD Pea Ridge
-
92. Fujii H, Miwa S, Tani K, et al. Glucose-6-phosphate dehydrogenase variants: A unique variant (G6PD Kobe) showed an extremely increased affinity for galactose 6-phosphate and a new variant (G6PD Sapporo) resembling G6PD Pea Ridge. Hum Genet 58:405-407, 1981.
-
(1981)
Hum Genet
, vol.58
, pp. 405-407
-
-
Fujii, H.1
Miwa, S.2
Tani, K.3
-
93
-
-
8544284858
-
Molecular characterisation of G6PD deficiency in Southern Italy: Heterogeneity, correlation genotype-phenotype and description of a new variant (G6PD Neopolis)
-
93. Alfinito F, Cimmino A, Ferraro F, et al. Molecular characterisation of G6PD deficiency in Southern Italy: heterogeneity, correlation genotype-phenotype and description of a new variant (G6PD Neopolis). Br J Haematol 98:41-46, 1997.
-
(1997)
Br J Haematol
, vol.98
, pp. 41-46
-
-
Alfinito, F.1
Cimmino, A.2
Ferraro, F.3
-
94
-
-
0027512086
-
G6PD "Campinas:" A deficient enzyme with a mutation at the far 3' end of the gene
-
94. Baronciani L, Tricta F, Beutler E. G6PD "Campinas:" A deficient enzyme with a mutation at the far 3' end of the gene. Hum Mutat 2:77-78, 1993.
-
(1993)
Hum Mutat
, vol.2
, pp. 77-78
-
-
Baronciani, L.1
Tricta, F.2
Beutler, E.3
-
95
-
-
0015170235
-
Table of human glucose-6-phosphate dehydrogenase variants
-
95. Yoshida A, Beutler E, Motulsky AG. Table of human glucose-6-phosphate dehydrogenase variants. Bull WHO 45:243-253, 1971.
-
(1971)
Bull WHO
, vol.45
, pp. 243-253
-
-
Yoshida, A.1
Beutler, E.2
Motulsky, A.G.3
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