A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa

13 páginas, 2 figuras.

Bibliographic Details
Authors:	Chuang, G. S., Martínez Mir, Amalia, Yu, H.-S., Sung, F.-Y., Chuang, R. Y., Cserhalmi-Friedman, P. B., Christiano, Angela M.
Format:	article
Publication Date:	2004
Country:	España
Institution:	Consejo Superior de Investigaciones Científicas (CSIC)
Repository:	DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:	oai:digital.csic.es:10261/39336
Online Access:	http://hdl.handle.net/10261/39336
Access Level:	Open access
Keyword:	Collagen type VII Epidermolysis bullosa dystrophica Molecular sequence data Mutation Missense COL7A1

Description
Summary:	13 páginas, 2 figuras.