Article
Two new mutations of the glucose-6-phosphate dehydrogenase (G6PD) gene associated with haemolytic anaemia: clinical, biochemical and molecular relationships.
British journal of haematology - 1 Sept 1997
Zarza R, Pujades A, Rovira A, Saavedra R, Fernandez J, Aymerich M, Vives Corrons J L
Abstract excerpt
In two unrelated Spanish males with glucose-6-phosphate dehydrogenase (G6PD) deficiency and haemolytic anaemia, and two different novel point mutations in the G6PD gene, have been identified. A C to T transition at nucleotide 406 resulting in a (136) Arg to Cys substitution and a C to G transitio...
Topics
- Anemia, Hemolytic
- Favism
- Glucosephosphate Dehydrogenase
- Glucosephosphate Dehydrogenase Deficiency
- Humans
- Male
- Mutation
- Polymorphism, Single-Stranded Conformational