Article
Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.
American journal of human genetics - 1 Aug 1994
Sherman J B, Raben N, Nicastri C, Argov Z, Nakajima H, Adams E M, Eng C M, Cowan T M, Plotz P H
Abstract excerpt
Phosphofructokinase (PFK) catalyzes the rate-limiting step of glycolysis. Deficiency of the muscle enzyme is manifested by exercise intolerance and a compensated hemolytic anemia. Case reports of this autosomal recessive disease suggest a predominance in Ashkenazi Jews in the United States. We ha...
Topics
- Adult
- Aged
- Amino Acid Sequence
- Base Sequence
- Blotting, Northern
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Exons
- Female
- Frameshift Mutation
- Gene Frequency
- Genetic Carrier Screening
- Glycogen Storage Disease Type VII
- Humans
- Introns