-
1
-
-
0003486206
-
Standardization of procedures for the study of glucose-6-phosphate dehydrogenase: Report of a WHO scientific group
-
Betke K, Beutler E, Brewer GJ, Kirkman AN, Luzzatto L, Motulsky AG, Ramot B, Siniscalco M (1967) Standardization of procedures for the study of glucose-6-phosphate dehydrogenase: report of a WHO scientific group. WHO Technical Report Series: 366.
-
(1967)
WHO Technical Report Series
, pp. 366
-
-
Betke, K.1
Beutler, E.2
Brewer, G.J.3
Kirkman, A.N.4
Luzzatto, L.5
Motulsky, A.G.6
Ramot, B.7
Siniscalco, M.8
-
2
-
-
0017347447
-
International Committee for Standardization in Haematology: Recommended methods for red cell enzyme analysis
-
Beutler E, Blume KG, Kaplan PC, Lohr GW, Ramot B, Valentine WM (1977) International Committee for Standardization in Haematology: Recommended methods for red cell enzyme analysis. Br J Haematol 35:331-340.
-
(1977)
Br J Haematol
, vol.35
, pp. 331-340
-
-
Beutler, E.1
Blume, K.G.2
Kaplan, P.C.3
Lohr, G.W.4
Ramot, B.5
Valentine, W.M.6
-
3
-
-
0024455091
-
Molecular heterogeneity of glucose-6-phosphate dehydrogenase A
-
Beutler E, Kuhl W, Vives Corrons JL, Prchal JT (1989) Molecular heterogeneity of glucose-6-phosphate dehydrogenase A. Blood 74:2550-2555.
-
(1989)
Blood
, vol.74
, pp. 2550-2555
-
-
Beutler, E.1
Kuhl, W.2
Vives Corrons, J.L.3
Prchal, J.T.4
-
4
-
-
0025871176
-
Mutation analysis of glucose-6 phosphate dehydrogenase (G6PD) variants in Costa Rica
-
Beutler E, Kuhl W, Sáenz G F, Rodríguez R (1991) Mutation analysis of glucose-6 phosphate dehydrogenase (G6PD) variants in Costa Rica. Hum Genet 87:462-464.
-
(1991)
Hum Genet
, vol.87
, pp. 462-464
-
-
Beutler, E.1
Kuhl, W.2
Sáenz, G.F.3
Rodríguez, R.4
-
5
-
-
0027940492
-
G6PD deficiency
-
Beutler E (1994) G6PD deficiency. Blood 84:3613-3636.
-
(1994)
Blood
, vol.84
, pp. 3613-3636
-
-
Beutler, E.1
-
6
-
-
0014216039
-
Harlem, a human hemoglobin variant with amino acid substitutions in 2 residues of the β-polypeptide chain
-
Harlem, a human hemoglobin variant with amino acid substitutions in 2 residues of the β-polypeptide chain. J Biol Chem 242:248-255.
-
(1967)
J Biol Chem
, vol.242
, pp. 248-255
-
-
Bookchin, R.M.1
Nagel, R.L.2
Ranney, H.M.3
-
7
-
-
0027520218
-
Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis
-
Calabro V. Mason P, Filosa S, Civitelli D, Cittadella R, Tagarelli A, Martini G, I Brancati C, Luzzatto L (1993) Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis. Am J Hum Genet 52:527-536.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 527-536
-
-
Calabro, V.1
Mason, P.2
Filosa, S.3
Civitelli, D.4
Cittadella, R.5
Tagarelli, A.6
Martini, G.I.7
Brancati, C.8
Luzzatto, L.9
-
8
-
-
0023945415
-
Human erythrocyte glucose 6-phosphate dehydrogenase. Identification of a reactive lysyl residue labelled with pyridoxal 5′-phosphate
-
Camardella L, Caruso C, Rutigliano B, Romano M, Di Prisco G, Descalzi-Cancedda F (1987) Human erythrocyte glucose 6-phosphate dehydrogenase. Identification of a reactive lysyl residue labelled with pyridoxal 5′-phosphate. Eur J Biochem. 171:485-489.
-
(1987)
Eur J Biochem
, vol.171
, pp. 485-489
-
-
Camardella, L.1
Caruso, C.2
Rutigliano, B.3
Romano, M.4
Di Prisco, G.5
Descalzi-Cancedda, F.6
-
9
-
-
0028968325
-
Galactosemia: A strategy to identify new biochemical phenotypes and molecular genotypes
-
Elsas LJ, Langley S, Steele E, Evinger J, Fridovich-Keil JL, Brown A, Singh R et al. (1995) Galactosemia: A strategy to identify new biochemical phenotypes and molecular genotypes. Am J Hum Genet 56:630-639.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 630-639
-
-
Elsas, L.J.1
Langley, S.2
Steele, E.3
Evinger, J.4
Fridovich-Keil, J.L.5
Brown, A.6
Singh, R.7
-
10
-
-
0027178843
-
G6PD haplotypes spanning Xq28 from F8C to Red/Green colour vision
-
Filosa S, Calabro V, Lania G, Vulliamy T, Brancati C, Tagarelli A, Luzzatto L and Martini G (1993) G6PD haplotypes spanning Xq28 from F8C to Red/Green colour vision. Genomics 17:6-14.
-
(1993)
Genomics
, vol.17
, pp. 6-14
-
-
Filosa, S.1
Calabro, V.2
Lania, G.3
Vulliamy, T.4
Brancati, C.5
Tagarelli, A.6
Luzzatto, L.7
Martini, G.8
-
11
-
-
0016828450
-
Haemoglobin C Zinguinchor alph A2 beta 6 2 (A3) Glu leads to Val beta 58 (E2) Pro leads to Arg: The second sickling variant with amino acid substitutions in 2 residues of the beta polypeptide chain
-
Goosens M, Garel MC, Garel MC, Auvinet J, Basset O, Ferreira-Gomes P, Rosa J, Arous N (1975) Haemoglobin C Zinguinchor alph A2 beta 6 2 (A3) Glu leads to Val beta 58 (E2) Pro leads to Arg: The second sickling variant with amino acid substitutions in 2 residues of the beta polypeptide chain. Febs Lett. 58:149-154.
-
(1975)
Febs Lett.
, vol.58
, pp. 149-154
-
-
Goosens, M.1
Garel, M.C.2
Garel, M.C.3
Auvinet, J.4
Basset, O.5
Ferreira-Gomes, P.6
Rosa, J.7
Arous, N.8
-
12
-
-
0014295009
-
Haemoglobin Korle-Bu (beta 73 aspartic acid replaced by asparagine) showing one of the two amino acid substitutions of haemoglobin C Harlem
-
Konotey-Ahulu FI, Gallo E, Lehman H, Ringelham B (1968) Haemoglobin Korle-Bu (beta 73 aspartic acid replaced by asparagine) showing one of the two amino acid substitutions of haemoglobin C Harlem. J Med Genet 5:107-111.
-
(1968)
J Med Genet
, vol.5
, pp. 107-111
-
-
Konotey-Ahulu, F.I.1
Gallo, E.2
Lehman, H.3
Ringelham, B.4
-
13
-
-
0018627115
-
Genetics of red cell susceptibility to malaria
-
Luzzatto L (1979) Genetics of red cell susceptibility to malaria. Blood 54:961-976.
-
(1979)
Blood
, vol.54
, pp. 961-976
-
-
Luzzatto, L.1
-
14
-
-
0001585429
-
Gluobse 6-phosphate dehydrogenase deficiency
-
Sciver CR, Beaudet AL, Sly WS, Valle D (eds): New York: McGraw-Hill
-
Luzzatto L, Metha A (1995) Gluobse 6-phosphate dehydrogenase deficiency. In Sciver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease, 7th ed. New York: McGraw-Hill, pp 3367-3398.
-
(1995)
The Metabolic Basis of Inherited Disease, 7th Ed.
, pp. 3367-3398
-
-
Luzzatto, L.1
Metha, A.2
-
15
-
-
0028143967
-
At least five polymorphic mutants account for the prevelence of glucose-6-phosphate dehydrogenase deficiency in Algeria
-
Nafa K, Reghis A, Osmani N, Baghli L, Ait-Abbes H, Benabadji M, Kaplan J-C, Vulliamy T, Luzzatto L (1994) At least five polymorphic mutants account for the prevelence of glucose-6-phosphate dehydrogenase deficiency in Algeria. Hum Genet 94:513-517.
-
(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
Kaplan, J.-C.7
Vulliamy, T.8
Luzzatto, L.9
-
16
-
-
0029879674
-
Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme
-
Naylor CE, Rowland P, Basak AK, Cover S, Mason PJ, Bautista JM, Vulliamy TJ et al. (1995) Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme. Blood 87:2974-2982.
-
(1995)
Blood
, vol.87
, pp. 2974-2982
-
-
Naylor, C.E.1
Rowland, P.2
Basak, A.K.3
Cover, S.4
Mason, P.J.5
Bautista, J.M.6
Vulliamy, T.J.7
-
17
-
-
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
-
Poggi V, Town M, Foulkes NS, Luzzatto L (1990) 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)
Biochem J
, vol.271
, pp. 157-160
-
-
Poggi, V.1
Town, M.2
Foulkes, N.S.3
Luzzatto, L.4
-
19
-
-
0014511659
-
Isolation and purification of human erythrocyte glucose-6 phosphate dehydrogenase from small amounts of blood
-
Rattazzi MC (1969) Isolation and purification of human erythrocyte glucose-6 phosphate dehydrogenase from small amounts of blood. Biochim Biophys Acta 181:1-8.
-
(1969)
Biochim Biophys Acta
, vol.181
, pp. 1-8
-
-
Rattazzi, M.C.1
-
20
-
-
0028297819
-
The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD Union (454 Arg-Cys) has a worldwide distribution possibly due to recurrent mutation
-
Rovira A, Vulliamy TJ, Pujades A, Luzzatto L, Vives Corrons J-L (1994) The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD Union (454 Arg-Cys) has a worldwide distribution possibly due to recurrent mutation. Hum Mol Genet 5:833-835.
-
(1994)
Hum Mol Genet
, vol.5
, pp. 833-835
-
-
Rovira, A.1
Vulliamy, T.J.2
Pujades, A.3
Luzzatto, L.4
Vives Corrons, J.-L.5
-
21
-
-
0029021237
-
Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain. Identification of two new point mutations in the G6PD gene
-
Rovira A, Vulliamy TJ, Pujades A, Luzzatto L, Vives Corrons J-L (1995) Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain. Identification of two new point mutations in the G6PD gene. Brit J Haem 91:66-71.
-
(1995)
Brit J Haem
, vol.91
, pp. 66-71
-
-
Rovira, A.1
Vulliamy, T.J.2
Pujades, A.3
Luzzatto, L.4
Vives Corrons, J.-L.5
-
22
-
-
0028774539
-
The three dimensional structure of glucose 6-phosphate dehydrogenase from Leuconostoc mesenteroides refined at 2A resolutin
-
Rowland P, Basak AK, Gower S, Levy HR, Adams MJ (1994) The three dimensional structure of glucose 6-phosphate dehydrogenase from Leuconostoc mesenteroides refined at 2A resolutin. Structure 2:1073-1087.
-
(1994)
Structure
, vol.2
, pp. 1073-1087
-
-
Rowland, P.1
Basak, A.K.2
Gower, S.3
Levy, H.R.4
Adams, M.J.5
-
23
-
-
0029076429
-
Natural selection of hemizygotes and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria
-
Ruwende C, Khoo SC, Snow RW, Yates SNR, Kwiatkowski D, Gupta S, Warn P et al. (1995) Natural selection of hemizygotes and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria. Nature 376:246-249.
-
(1995)
Nature
, vol.376
, pp. 246-249
-
-
Ruwende, C.1
Khoo, S.C.2
Snow, R.W.3
Yates, S.N.R.4
Kwiatkowski, D.5
Gupta, S.6
Warn, P.7
-
24
-
-
0021130510
-
A glucose 6-phosphate dehydrogenase variant Gd(-) Santamaria found in Costa Rica
-
Saenz GF, Chaves M, Berrantes A, Elizondo J, Montero A G, Yoshida A (1984) A glucose 6-phosphate dehydrogenase variant Gd(-) Santamaria found in Costa Rica. Acta Haemat 72:37-40.
-
(1984)
Acta Haemat
, vol.72
, pp. 37-40
-
-
Saenz, G.F.1
Chaves, M.2
Berrantes, A.3
Elizondo, J.4
Montero, A.G.5
Yoshida, A.6
-
25
-
-
0025993003
-
A simple and rapid method of direct sequencing using Dynabeads
-
Thein SL, Hinton J (1991) A simple and rapid method of direct sequencing using Dynabeads. Br J Haematol 79:113-115.
-
(1991)
Br J Haematol
, vol.79
, pp. 113-115
-
-
Thein, S.L.1
Hinton, J.2
-
26
-
-
0026879729
-
Both mutations in G6PD A- Are necessary to produce the G6PD deficient phenotype
-
Town M, Bautista JM, Mason PJ, Luzzatto L (1992) Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype. Hum Mol Genet 1:171-174.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 171-174
-
-
Town, M.1
Bautista, J.M.2
Mason, P.J.3
Luzzatto, L.4
-
27
-
-
0026002955
-
Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolutin of the variants A and A
-
Vulliamy TJ, Othman A, Town M, Nathwani A, Falusi AG, Mason PJ, Luzzatto L (1991) Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolutin of the variants A and A. Proc Natl Acad Sci USA 88:8568-8571.
-
(1991)
Proc Natl Acad Sci USA
, 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
Luzzatto, L.7
-
28
-
-
0027259193
-
Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene
-
Vulliamy T, Beutler E, Luzzatto L (1993) Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene. Hum Mutat 2:159-167.
-
(1993)
Hum Mutat
, vol.2
, pp. 159-167
-
-
Vulliamy, T.1
Beutler, E.2
Luzzatto, L.3
-
29
-
-
0028852395
-
G6PD mutations and haplotypes in various ethnic groups
-
Xu W, Westwood B, Bartsocas CS, Malcorra-Azpiazu JJ, Indrak K, Beutler E (1995) G6PD mutations and haplotypes in various ethnic groups. Blood 85:257-263.
-
(1995)
Blood
, vol.85
, pp. 257-263
-
-
Xu, W.1
Westwood, B.2
Bartsocas, C.S.3
Malcorra-Azpiazu, J.J.4
Indrak, K.5
Beutler, E.6
|