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Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism

Oculocutaneous albinism (OCA) is a group of inherited disorders characterized by defective melanin biosynthesis. OCA1, the most common and severe form, is caused by mutations in the tyrosinase (TYR) gene. OCA4, caused by mutations in the SLC45A2 gene, has frequently been reported in the Japanese pop...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: KO, JUNG MIN, YANG, JUNG-AH, JEONG, SEON-YONG, KIM, HYON-JU
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: D.A. Spandidos 2012
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3493039/
https://ncbi.nlm.nih.gov/pubmed/22294196
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2012.764
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