Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism

BACKGROUND: Oculocutaneous albinism (OCA) is a group of heterogeneous autosomal recessive genetic disorder of melanin synthesis results in hypopigmented hair, skin, and eyes. OCA type 1, OCA type 2, and OCA type 4, which are respectively caused by mutations in TYR, OCA2, and SLC45A2 have high morbid...

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Detalles Bibliográficos
Autores principales: Lin, Ye, Chen, Xihui, Yang, Ying, Che, Fengyu, Zhang, Sijia, Yuan, Lijuan, Wu, Yuanming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625147/
https://www.ncbi.nlm.nih.gov/pubmed/31199599
http://dx.doi.org/10.1002/mgg3.687

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