Compound heterozygosity of the novel −186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa

Saved in:

Bibliographic Details
Published in:	British journal of dermatology (1951) Vol. 168; no. 4; pp. 904 - 906
Main Authors:	Ritelli, M., Chiarelli, N., Quinzani, S., Dordoni, C., Venturini, M., Calzavara-Pinton, P., Colombi, M.
Format:	Journal Article
Language:	English
Published:	Oxford, UK Blackwell Publishing Ltd 01-04-2013 Wiley-Blackwell
Subjects:	Biological and medical sciences Bullous diseases of the skin Collagen Type VII - genetics Dermatology Epidermolysis Bullosa Dystrophica - genetics Heterozygote Humans Male Medical sciences Middle Aged Mutation - genetics Promoter Regions, Genetic - genetics Bullous dermatosis Skin disease Relapse Dermatology Recurrent Compounds Generalized Genetic disease Heterozygosity Promoter Genetics Mutation Dystrophic epidermolysis bullosa
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Bibliography:	ark:/67375/WNG-HRGDCNK5-W ArticleID:BJD12063 istex:B0613D56050263E4442D6E70781CBB73225D21D8 Funding sources: this study was funded by the Ministero dell’Istruzione, dell’Università e della Ricerca, Fondo per gli Investimenti della Ricerca di Base 2009–2011 and Regione Lombardia (Network‐Enabled Drug Design) 2011. Conflicts of interest: none declared.
ISSN:	0007-0963 1365-2133
DOI:	10.1111/bjd.12063