Article
Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.
American journal of human genetics - 1 Jul 1996
Nichols R C, Rudolphi O, Ek B, Exelbert R, Plotz P H, Raben N
Abstract excerpt
Phosphofructokinase (PFK) plays a major role in glycolysis. Human PFK is composed of three isoenzyme subunits (muscle [Ml, liver [L], and platelet [P]), which are encoded by different genes. Deficiency of muscle isoenzyme (PFK-M), glycogenosis type VII (Tarui disease), is an autosomal recessive d...
Topics
- Adolescent
- Adult
- Alternative Splicing
- Base Sequence
- DNA Primers
- Exons
- Female
- Glycogen Storage Disease Type VII
- Heterozygote
- Humans
- Introns
- Isoenzymes