Article
The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.
The Journal of clinical investigation - 1 Dec 1994
Xu W, Beutler E
Abstract excerpt
DNA was isolated from four unrelated glucose phosphate isomerase-deficient patients. Seven new mutations in the coding region were found: 247 C-->T, 671 C-->T, 818 G-->A, 833 C-->T, 1039 C-->T, 1459 C-->T, and 1483 G-->A. Three patients were compound heterozygotes, and one patient was a homozygot...
Topics
- Anemia, Hemolytic
- Anemia, Hemolytic, Congenital Nonspherocytic
- Base Sequence
- Black People
- Child
- Child, Preschool
- Chronic Disease
- Glucose-6-Phosphate Isomerase
- Humans
- Indians, North American
- Male
- Molecular Sequence Data
- Mutation
- United States
- White People
- Black or African American