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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Detaylı Bibliyografya
Yayımlandı:Oncotarget
Asıl Yazarlar: Wang, Xiong, Zhu, Yaowu, Shen, Na, Peng, Jing, Wang, Chunyu, Liu, Haiyi, Lu, Yanjun
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Impact Journals LLC 2016
Konular:
Research Paper
Online Erişim: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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