✦ LIBER ✦

How Does a g993t Mutation in the Emerin Gene Cause Emery–Dreifuss Muscular Dystrophy?

✍ Scribed by Ian Holt; Lisa Clements; Sushila Manilal; Glenn E. Morris

Book ID: 115588760
Publisher: Elsevier Science
Year: 2001
Tongue: English
Weight: 85 KB
Volume: 287
Category: Article
ISSN: 0006-291X
DOI: 10.1006/bbrc.2001.5708

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Six novel mutations in the emerin gene c

Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy

✍ 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

A novel emerin mutation in a Japanese pa

A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy

✍ Takeshi Yamada,Takuro Kobayashi 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 100 KB

Emery-Dreifuss Muscular Dystrophy: A Nov

Emery-Dreifuss Muscular Dystrophy: A Novel Mutation in the LMNA Gene

✍ Petra Laššuthová; Lucia Baránková; Josef Kraus; Tat'ána Maříková; Pavel Seeman 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 210 KB

Frequent low penetrance mutations in the

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy

✍ Michal Vytopil; Enzo Ricci; Antonio Dello Russo; Frank Hanisch; Stephan Neudecke 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 79 KB

Mutations in the gene encoding lamin A/C

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

✍ Bonne, Gisèle; Schwartz, Ketty; Barletta, Marina Raffaele Di; Varnous, Shaida; B 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 425 KB

Mutations in the gene encoding lamin A/C

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

✍ Bonne, Gisèle; Schwartz, Ketty; Barletta, Marina Raffaele Di; Varnous, Shaida; B 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 425 KB