Article
Identification of two novel deletion mutations in glucose-6-phosphate dehydrogenase gene causing hemolytic anemia.
Blood - 15 Feb 1995
Hirono A, Fujii H, Miwa S
Abstract excerpt
Among over 50 distinct mutations causing glucose-6-phosphate dehydrogenase (G6PD) deficiency, only two deletion mutations have so far been reported. Using nonradioisotopic single-strand conformation polymorphism analysis, we found two additional deletion mutations in two Japanese G6PD-deficient patients with nonspherocytic hemolytic anemia. Case no. 1 had a 3-nucleotide deletion in exon 6 predicting a deletion of...
Topics
- Amino Acid Sequence
- Anemia, Hemolytic
- Base Sequence
- Child
- Exons
- Genetic Variation
- Glucosephosphate Dehydrogenase
- Glucosephosphate Dehydrogenase Deficiency
- Humans
- Male
- Molecular Sequence Data