✦ LIBER ✦

Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease

✍ Scribed by Claudio Bruno; Roberta Lanzillo; Claudia Biedi; Lucia Iadicicco; Carlo Minetti; Lucio Santoro

Book ID: 117669528
Publisher: Elsevier Science
Year: 2002
Tongue: English
Weight: 87 KB
Volume: 12
Category: Article
ISSN: 0960-8966
DOI: 10.1016/s0960-8966(01)00320-0

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Two novel mutations in the myophosphoryl

Two novel mutations in the myophosphorylase gene in a patient with McArdle disease

✍ Marcus Deschauer; Kathrin Hertel; Stephan Zierz 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 129 KB

A new mutation in the myophosphorylase g

A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease

✍ Antonio L Andreu; Claudio Bruno; Lucia Tamburino; Josep Gamez; Sara Shanske; Car 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 94 KB

A nonsense mutation in the myophosphoryl

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

✍ Claudio Bruno; Lucia Tamburino; Noriko Kawashima; Antonio L. Andreu; Sara Shansk 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 203 KB

Two novel missense mutations (E654K, L39

Two novel missense mutations (E654K, L396P) in caucasian patients with myophosphorylase deficiency (McArdle's disease)

✍ Seiichi Tsujino; Sara Shanske; Andrea Martinuzzi; Terry Heiman-Patterson; Salvat 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 204 KB

A new stop codon mutation (Y52X) in the

A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease

✍ Georgios M Hadjigeorgiou; Alexandros Papadimitriou; Olimpia Musumeci; Konstantin 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 154 KB

A missense mutation W797R in the myophos

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