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

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Published in:Pigment cell and melanoma research 2016-01, Vol.29 (1), p.104-106
Main Authors: Bertolotti, Antoine, Lasseaux, Eulalie, Plaisant, Claudio, Trimouille, Aurelien, Morice-Picard, Fanny, Rooryck, Caroline, Lacombe, Didier, Couppie, Pierre, Arveiler, Benoît
Format: Article
Language:English
Subjects:
Aged
Albinism, Oculocutaneous - genetics
Antiporters - genetics
Conserved Sequence
Female
French Guiana
Genetic Predisposition to Disease
Homozygote
Humans
Mutation - genetics
Polymorphism, Single Nucleotide - genetics
Young Adult
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container_issue 1
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container_title Pigment cell and melanoma research
container_volume 29
creator Bertolotti, Antoine
Lasseaux, Eulalie
Plaisant, Claudio
Trimouille, Aurelien
Morice-Picard, Fanny
Rooryck, Caroline
Lacombe, Didier
Couppie, Pierre
Arveiler, Benoît
description
doi_str_mv 10.1111/pcmr.12425
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subjects Aged
Albinism, Oculocutaneous - genetics
Antiporters - genetics
Conserved Sequence
Female
French Guiana
Genetic Predisposition to Disease
Homozygote
Humans
Mutation - genetics
Polymorphism, Single Nucleotide - genetics
Young Adult
title Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana
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