A single mutation 202g>A in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself [1]

Blood

Volumn 99, Issue 4, 2002, Pages 1498-

  Hirono, Akira ^a   Kawate, Kazuhiro ^a   Honda, Akihito ^a   Fujii, Hisaichi ^a   Miwa, Shiro ^a  

^a Okinaka Memorial Institute for Medical Research   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

ANEMIA; CASE REPORT; CHILD; ENZYME ACTIVITY; GENE MUTATION; HEMOLYSIS; HUMAN; JAUNDICE; LETTER; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0037082463     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V99.4.1498     Document Type: Letter

References (9)

1. Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-)
2. Molecular heterogeneity of glucose-6-phosphate dehydrogenase A
3. Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme
4. Structural defects underlying protein dysfunction in human glucose-6-phosphate dehydrogenase A-deficiency
5. A single nucleotide base transltion is the basis of the common human glucose-6-phosphate dehydrogenase variant A(+)
6. Both mutations in G6PD A are necessary to produce the G6PD deficient phenotype
7. Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by non-radioisotopic single-strand conformation polymorphism analysis
8. Human glucose-6-phosphate dehydrogenase variants
9. 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