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

✍ Scribed by Michal Vytopil; Enzo Ricci; Antonio Dello Russo; Frank Hanisch; Stephan Neudecker; Stephan Zierz; Roberta Ricotti; Laurence Demay; Pascale Richard; Manfred Wehnert; Gisèle Bonne; Luciano Merlini; Daniela Toniolo


Book ID
117669660
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
79 KB
Volume
12
Category
Article
ISSN
0960-8966

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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