Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism

BACKGROUND: Tyrosinase-positive oculocutaneous albinism (OCA, type II, OCA2) is an autosomal recessive genetic disease in which the biosynthesis of melanin decreases in the skin, hair, and eyes. OCA2 disease is caused by mutations in OCA2 gene. The gene product plays a role in regulating the pH of m...

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Detalles Bibliográficos
Autores principales: Ma, Linya, Zhu, Jianjian, Wang, Jing, Huang, Yazhou, Zhang, Jibo, Wang, Chao, Zhou, Yuan, Peng, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544823/
https://www.ncbi.nlm.nih.gov/pubmed/34707637
http://dx.doi.org/10.3389/fgene.2021.715437

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544823/
https://www.ncbi.nlm.nih.gov/pubmed/34707637
http://dx.doi.org/10.3389/fgene.2021.715437

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