-
1
-
-
0027940492
-
G6PD deficiency
-
Beutler E. G6PD deficiency. Blood 84 (1994) 3613-3636
-
(1994)
Blood
, vol.84
, pp. 3613-3636
-
-
Beutler, E.1
-
2
-
-
47249158674
-
-
Luzzatto L., Mehta A., Glucose 6 Phosphate deshydrogenase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Vall D, ed. The metabolic basis of inherited desease, 6th ed. New York McGrow Hill., In: Anonymous, 1989, pp. 2237-2254.
-
Luzzatto L., Mehta A., Glucose 6 Phosphate deshydrogenase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Vall D, ed. The metabolic basis of inherited desease, 6th ed. New York McGrow Hill., In: Anonymous, 1989, pp. 2237-2254.
-
-
-
-
3
-
-
0344985724
-
Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia
-
Vulliamy T.J., D'Urso M., Battistuzzi G., Estrada M., Foulkes N.S., Martini 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 (1988) 5171-5175
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 5171-5175
-
-
Vulliamy, T.J.1
D'Urso, M.2
Battistuzzi, G.3
Estrada, M.4
Foulkes, N.S.5
Martini, G.6
-
4
-
-
0029933131
-
G6PD: population genetics and clinical manifestations
-
Beutler E. G6PD: population genetics and clinical manifestations. Blood Rev 10 (1996) 45-52
-
(1996)
Blood Rev
, vol.10
, pp. 45-52
-
-
Beutler, E.1
-
5
-
-
0025203513
-
The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia
-
Beutler E., and Kuhl W. The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. Am J Hum Genet 47 (1990) 1008-1012
-
(1990)
Am J Hum Genet
, vol.47
, pp. 1008-1012
-
-
Beutler, E.1
Kuhl, W.2
-
6
-
-
0024493798
-
Two point mutations are responsible for G6PD polymorphism in Sardinia
-
De Vita G., Alcalay M., Sampietro M., Cappelini M.D., Fiorelli G., and Toniolo D. Two point mutations are responsible for G6PD polymorphism in Sardinia. Am J Hum Genet 44 (1989) 233-240
-
(1989)
Am J Hum Genet
, vol.44
, pp. 233-240
-
-
De Vita, G.1
Alcalay, M.2
Sampietro, M.3
Cappelini, M.D.4
Fiorelli, G.5
Toniolo, D.6
-
7
-
-
0025242265
-
Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD-Mediterranean) in the Middle East
-
Kurdi-Haidar B., Mason P.J., Berrebi A., Ankra-Badu G., al Ali A., Oppenheim A., et al. Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD-Mediterranean) in the Middle East. Am J Hum Genet 47 (1990) 1013-1019
-
(1990)
Am J Hum Genet
, vol.47
, pp. 1013-1019
-
-
Kurdi-Haidar, B.1
Mason, P.J.2
Berrebi, A.3
Ankra-Badu, G.4
al Ali, A.5
Oppenheim, A.6
-
8
-
-
0025075429
-
Molecular genetics of the glucose-6-phosphate dehydrogenase (G6PD) Mediterranean variant and description of a new G6PD mutant, G6PD Andalus1361A
-
Vives-Corrons J.L., Kuhl W., Pujades M.A., and Beutler E. Molecular genetics of the glucose-6-phosphate dehydrogenase (G6PD) Mediterranean variant and description of a new G6PD mutant, G6PD Andalus1361A. Am J Hum Genet 47 (1990) 575-579
-
(1990)
Am J Hum Genet
, vol.47
, pp. 575-579
-
-
Vives-Corrons, J.L.1
Kuhl, W.2
Pujades, M.A.3
Beutler, E.4
-
9
-
-
0028216018
-
Molecular characterisation of red cell glucose-6-phosphate dehydrogenase deficiency in north-west Pakistan
-
Saha N., Ramzan M., Tay J.S., Low P.S., Basair J.B., and Khan F.M. Molecular characterisation of red cell glucose-6-phosphate dehydrogenase deficiency in north-west Pakistan. Hum Hered 44 (1994) 85-89
-
(1994)
Hum Hered
, vol.44
, pp. 85-89
-
-
Saha, N.1
Ramzan, M.2
Tay, J.S.3
Low, P.S.4
Basair, J.B.5
Khan, F.M.6
-
10
-
-
0026002955
-
Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-
-
Vulliamy T.J., Othman A., Town M., Nathwani A., Falusi A.G., Mason P.J., et al. Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-. Proc Natl Acad Sci U S A 88 (1991) 8568-8571
-
(1991)
Proc Natl Acad Sci U S A
, vol.88
, pp. 8568-8571
-
-
Vulliamy, T.J.1
Othman, A.2
Town, M.3
Nathwani, A.4
Falusi, A.G.5
Mason, P.J.6
-
11
-
-
0026756752
-
A new polymorphic site in the G6PD gene
-
Beutler E., Westwood B., and Sipe B. A new polymorphic site in the G6PD gene. Hum Genet 89 (1992) 485-486
-
(1992)
Hum Genet
, vol.89
, pp. 485-486
-
-
Beutler, E.1
Westwood, B.2
Sipe, B.3
-
12
-
-
0003486206
-
Standardisation of the procedure of the study of glucose 6 phosphate deshydrogenase
-
Betke K., Brewer G.J., Kirkman H.N., Luzzatto L., Motulsky A.G., Ramot B., et al. Standardisation of the procedure of the study of glucose 6 phosphate deshydrogenase. WHO Tech Rep Ser 366 (1967) 53-67
-
(1967)
WHO Tech Rep Ser
, vol.366
, pp. 53-67
-
-
Betke, K.1
Brewer, G.J.2
Kirkman, H.N.3
Luzzatto, L.4
Motulsky, A.G.5
Ramot, B.6
-
13
-
-
0027520218
-
Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis
-
Calabro V., Mason P.J., Filosa S., Civitelli D., Cittadella R., Tagarelli A., et al. Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis. Am J Hum Genet 52 (1993) 527-536
-
(1993)
Am J Hum Genet
, vol.52
, pp. 527-536
-
-
Calabro, V.1
Mason, P.J.2
Filosa, S.3
Civitelli, D.4
Cittadella, R.5
Tagarelli, A.6
-
14
-
-
0028143967
-
At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria
-
Nafa K., Reghis A., Osmani N., Baghli L., Ait-Abbes H., Benabadji M., et al. At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria. Hum Genet 94 (1994) 513-517
-
(1994)
Hum Genet
, vol.94
, pp. 513-517
-
-
Nafa, K.1
Reghis, A.2
Osmani, N.3
Baghli, L.4
Ait-Abbes, H.5
Benabadji, M.6
-
15
-
-
0031241421
-
[Molecular analysis of glucose-6-dehydrogenase deficiency in Spain]
-
Vives Corrons J.L., Zarza R., Aymerich J.M., Boixadera J., Carrera A., Colomer D., et al. [Molecular analysis of glucose-6-dehydrogenase deficiency in Spain]. Sangre (Barc.) 42 (1997) 391-398
-
(1997)
Sangre (Barc.)
, vol.42
, pp. 391-398
-
-
Vives Corrons, J.L.1
Zarza, R.2
Aymerich, J.M.3
Boixadera, J.4
Carrera, A.5
Colomer, D.6
-
16
-
-
0035134811
-
Genotype and phenotype correlation in glucose-6-phosphate dehydrogenase deficiency
-
Pietrapertosa A., Palma A., Campanale D., Delios G., Vitucci A., and Tannoia N. Genotype and phenotype correlation in glucose-6-phosphate dehydrogenase deficiency. Haematologica 86 (2001) 30-35
-
(2001)
Haematologica
, vol.86
, pp. 30-35
-
-
Pietrapertosa, A.1
Palma, A.2
Campanale, D.3
Delios, G.4
Vitucci, A.5
Tannoia, N.6
-
17
-
-
0038300005
-
Mild hemolysis in a girl with G6PD Sumare (class I variant) associated with G6PD A-
-
Saad S.T., and Costa F.F. Mild hemolysis in a girl with G6PD Sumare (class I variant) associated with G6PD A-. Blood Cells Mol Dis 30 (2003) 238-240
-
(2003)
Blood Cells Mol Dis
, vol.30
, pp. 238-240
-
-
Saad, S.T.1
Costa, F.F.2
-
18
-
-
13344284636
-
Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Al-Ain District, United Arab Emirates
-
Bayoumi R.A., Nur-E-Kamal M.S., Tadayyon M., Mohamed K.K., Mahboob B.H., Qureshi M.M., et al. Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Al-Ain District, United Arab Emirates. Hum Hered 46 (1996) 136-141
-
(1996)
Hum Hered
, vol.46
, pp. 136-141
-
-
Bayoumi, R.A.1
Nur-E-Kamal, M.S.2
Tadayyon, M.3
Mohamed, K.K.4
Mahboob, B.H.5
Qureshi, M.M.6
-
19
-
-
0022904119
-
Red cell genetic abnormalities in Peninsular Arabs: sickle haemoglobin, G6PD deficiency, and alpha and beta thalassaemia
-
White J.M., Byrne M., Richards R., Buchanan T., Katsoulis E., and Weerasingh K. Red cell genetic abnormalities in Peninsular Arabs: sickle haemoglobin, G6PD deficiency, and alpha and beta thalassaemia. J Med Genet 23 (1986) 245-251
-
(1986)
J Med Genet
, vol.23
, pp. 245-251
-
-
White, J.M.1
Byrne, M.2
Richards, R.3
Buchanan, T.4
Katsoulis, E.5
Weerasingh, K.6
-
20
-
-
15844386537
-
Multiple G6PD mutations are associated with a clinical and biochemical phenotype similar to that of G6PD Mediterranean
-
Cappellini M.D., Martinez d.M., De Bellis G., Debernardi S., Dotti C., and Fiorelli G. Multiple G6PD mutations are associated with a clinical and biochemical phenotype similar to that of G6PD Mediterranean. Blood 87 (1996) 3953-3958
-
(1996)
Blood
, vol.87
, pp. 3953-3958
-
-
Cappellini, M.D.1
Martinez, d.M.2
De Bellis, G.3
Debernardi, S.4
Dotti, C.5
Fiorelli, G.6
-
21
-
-
0027537149
-
G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism
-
Nafa K., Reghis A., Osmani N., Baghli L., Benabadji M., Kaplan J.C., et al. G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism. Hum Mol Genet 2 (1993) 81-82
-
(1993)
Hum Mol Genet
, vol.2
, pp. 81-82
-
-
Nafa, K.1
Reghis, A.2
Osmani, N.3
Baghli, L.4
Benabadji, M.5
Kaplan, J.C.6
-
23
-
-
0029842792
-
Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency
-
Filosa S., Giacometti N., Wangwei C., De Mattia D., Pagnini D., Alfinito F., et al. Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency. Am J Hum Genet 59 (1996) 887-895
-
(1996)
Am J Hum Genet
, vol.59
, pp. 887-895
-
-
Filosa, S.1
Giacometti, N.2
Wangwei, C.3
De Mattia, D.4
Pagnini, D.5
Alfinito, F.6
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