Article
A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).
The Journal of biological chemistry - 5 Mar 1993
Raben N, Sherman J, Miller F, Mena H, Plotz P
Abstract excerpt
A deficiency of the muscle isoform of the enzyme, phosphofructokinase (PFK, EC 2.7.1.11), leads to an illness (glycogenosis, Type VII) characterized by myopathy and hemolysis. A patient with this disease and an affected sister were found to have a G to A substitution at the 5' donor site of intro...
Topics
- Base Sequence
- Cell Line, Transformed
- DNA
- DNA Mutational Analysis
- Exons
- Female
- Glycogen Storage Disease Type VII
- Humans
- Jews
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Phosphofructokinase-1
- Polymerase Chain Reaction
- RNA Splicing
- RNA, Messenger
- Sequence Deletion