在两名来自法属圭亚那的眼皮肤白化病患者中鉴定出SLC24A5（OCA6）的纯合突变。 - Suppr

Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana.

作者信息

Bertolotti Antoine, Lasseaux Eulalie, Plaisant Claudio, Trimouille Aurelien, Morice-Picard Fanny, Rooryck Caroline, Lacombe Didier, Couppie Pierre, Arveiler Benoît

机构信息

Dermatology, Rosemon Hospital, Cayenne, French Guiana.

Genetics, University Hospital Center, Bordeaux, France.

出版信息

Pigment Cell Melanoma Res. 2016 Jan;29(1):104-6. doi: 10.1111/pcmr.12425. Epub 2015 Nov 3.

DOI:10.1111/pcmr.12425

PMID:26491832

Abstract

摘要

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Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana.

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Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana.

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