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A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease

✍ Scribed by Miguel A Martı́n; Juan C Rubio; Y Campos; J.R Ricoy; A Cabello; J Arenas

Book ID
117671124
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
85 KB
Volume
10
Category
Article
ISSN
0960-8966

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A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease
✍ Juan C. Rubio; Miguel A. Martín; Yolanda Campos; Raffaella Auciello; Ana Cabello 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 116 KB 👁 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