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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Detalles Bibliográficos
Autores principales: Wang, Xiong, Zhu, Yaowu, Shen, Na, Peng, Jing, Wang, Chunyu, Liu, Haiyi, Lu, Yanjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2016
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5356713/
https://www.ncbi.nlm.nih.gov/pubmed/27829221
http://dx.doi.org/10.18632/oncotarget.13109

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5356713/
https://www.ncbi.nlm.nih.gov/pubmed/27829221
http://dx.doi.org/10.18632/oncotarget.13109

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