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Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

✍ Scribed by Brais, Bernard; Bouchard, Jean-Pierre; Xie, Ya-Gang; Rochefort, Daniel L.; Chrétien, Nathalie; Tomé, Fernando M.S.; Lafrentére, Ronald G.; Rommens, Johanna M.; Uyama, Eichiro; Nohira, Osamu


Book ID
109915245
Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
493 KB
Volume
18
Category
Article
ISSN
1061-4036

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Oculopharyngeal muscular dystrophy (OPMD
✍ Barbara M. van der Sluijs; Baziel G.M. van Engelen; Lies H. Hoefsloot 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB

Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant muscle disorder. The OPMD-locus has been mapped to chromosome 14q11.2-q13. The polyadenylate binding protein nuclear 1 (PABPN1; PABP2) gene has been identified as the mutated gene. The mutation consists of a short meiotical