Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.

作者信息

Rodríguez Fernando A, Gana María José, Yubero María Joao, Zillmann Gisela, Krämer Susanne M, Catalán Javiera, Rubio-Astudillo Julia, González Sergio, Liu Lu, Ozoemena Linda, Mellerio Jemima E, McGrath John A, Palisson Francis, Conget Paulette

出版信息

J Dermatol Sci. 2012 Feb;65(2):149-52. doi: 10.1016/j.jdermsci.2011.11.010. Epub 2011 Dec 13.

DOI:10.1016/j.jdermsci.2011.11.010

PMID:22209565

Abstract

摘要

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Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.

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Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.VII 型胶原中的相同甘氨酸取代突变可能是显性和隐性营养不良型大疱性表皮松解症的基础。

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A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.

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