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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

✍ Scribed by Bonne, Gisèle; Schwartz, Ketty; Barletta, Marina Raffaele Di; Varnous, Shaida; Bécane, Henri-Marc; Hammouda, El-Hadi; Merlini, Luciano; Muntoni, Francesco; Greenberg, Cheryl R.; Gary, Françoise; Urtizberea, Jon-Andoni; Duboc, Denis; Fardeau, Michel; Toniolo, Daniela


Book ID
109826937
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
425 KB
Volume
21
Category
Article
ISSN
1061-4036

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Six novel mutations in the emerin gene c
✍ Karin Wulff; Julia E. Parrish; Falko H. Herrmann; Manfred Wehnert 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB 👁 3 views

## Communicated by Jiirgen Horst Mutations in the emerin gene, also referred to as the STA-or EMD-gene, have been found to be the cause of X-linked Emery-Dreifuss muscular dystrophy (EMD). For the present study an optimized set of primers was designed to amplify and sequence each of the six emerin