A recurrent ‘hot spot’ glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII

✍ Scribed by Nishie, Wataru; Natsuga, Ken; Nakamura, Hideki; Ito, Takamasa; Toyonaga, Ellen; Sato, Hidetsugu; Shimizu, Hiroshi

• Book ID: 122939470
• Publisher: Elsevier Science
• Year: 2014
• Tongue: English
• Weight: 978 KB
• Volume: 75
• Category: Article
• ISSN: 0923-1811
• DOI: 10.1016/j.jdermsci.2014.04.006