Molecular Abnormality of a Phosphoglycerate Kinase Variant (PGK-Alabama)
✍ Scribed by Akira Yoshida; Thomas W. Twele; Vibha Davé; Ernest Beutler
- Book ID
- 115589824
- Publisher
- Elsevier Science
- Year
- 1995
- Tongue
- English
- Weight
- 22 KB
- Volume
- 21
- Category
- Article
- ISSN
- 1079-9796
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## Abstract The X‐linked recessive disease phosphoglycerate kinase (PGK) deficiency is caused by altered expression of the PGK1 enzyme, which causes muscle stiffness, hemolytic anemia, and mental retardation. In this study we characterized the __PGK1__ gene in a family of two brothers, two sisters,
The mammalian genome contains two functional loci for the production of phosphoglycerate kinase, PGK-1, an X-linked gene expressed in all somatic cells, and PGK-2, an autosomal intron-less gene expressed exclusively in late spermatogenesis. A nucleotide substitution from guanine to thymine was recen