SLC24A5基因突变与非综合征性眼皮肤白化病相关。 - Suppr | 超能文献

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SLC24A5基因突变与非综合征性眼皮肤白化病相关。 - Suppr | 超能文献

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

作者信息

Morice-Picard Fanny, Lasseaux Eulalie, François Stéphane, Simon Delphine, Rooryck Caroline, Bieth Eric, Colin Estelle, Bonneau Dominique, Journel Hubert, Walraedt Sophie, Leroy Bart P, Meire Francoise, Lacombe Didier, Arveiler Benoit

机构信息

Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.

Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.

出版信息

J Invest Dermatol. 2014 Feb;134(2):568-571. doi: 10.1038/jid.2013.360. Epub 2013 Aug 28.

DOI:10.1038/jid.2013.360

Abstract

摘要

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