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Mutation analysis of a Chinese family with oculocutaneous albinism

Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by either complete lack of or a reduction in melanin biosynthesis in the skin, hair, and eyes. OCA1, the most common and severe type, is caused by mutations in the tyrosinase (TYR) gene. In this study, we report a Chinese...

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Опубликовано в: :Oncotarget
Главные авторы: Wang, Xiong, Zhu, Yaowu, Shen, Na, Peng, Jing, Wang, Chunyu, Liu, Haiyi, Lu, Yanjun
Формат: Artigo
Язык:Inglês
Опубликовано: Impact Journals LLC 2016
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5356713/
https://ncbi.nlm.nih.gov/pubmed/27829221
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/oncotarget.13109
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