Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex

✍ Scribed by Rugg, Elizabeth L; Rachet-Préhu, Marie-Odette; Rochat, Ariane; Barrandon, Yann; Goossens, Michel; Lane, E Birgitte; Hovnanian, Alain

• Book ID: 110024800
• Publisher: Nature Publishing Group
• Year: 1999
• Tongue: English
• Weight: 252 KB
• Volume: 7
• Category: Article
• ISSN: 1018-4813
• DOI: 10.1038/sj.ejhg.5200292