𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease

✍ Scribed by Claudio Bruno; Lucia Tamburino; Noriko Kawashima; Antonio L. Andreu; Sara Shanske; George M. Hadjigeorgiou; Atsushi Kawashima; Salvatore DiMauro


Book ID
117670993
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
203 KB
Volume
9
Category
Article
ISSN
0960-8966

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


A missense mutation W797R in the myophos
✍ Juan C. Rubio; Miguel A. MartΓ­n; Yolanda Campos; Raffaella Auciello; Ana Cabello πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 116 KB πŸ‘ 2 views

We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous T-to-C transition results in the replacement of a highly conserved tryptophan at amino acid position (aa) 797 with an arginine in the C-terminal domain of the PYGM