Mutational analysis of a Chinese family with oculocutaneous albinism type 2

Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypopigmentation of the skin, hair, and eyes accompanied with ophthalmologic abnormalities. Molecular genetic test can confirm the diagnosis of the four subtypes of OCA (OCA1-4). Herein, we report a Chinese family with...

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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 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5642559/
https://www.ncbi.nlm.nih.gov/pubmed/29050284
http://dx.doi.org/10.18632/oncotarget.19697

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5642559/
https://www.ncbi.nlm.nih.gov/pubmed/29050284
http://dx.doi.org/10.18632/oncotarget.19697

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