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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Lin, Ye, Chen, Xihui, Yang, Ying, Che, Fengyu, Zhang, Sijia, Yuan, Lijuan, Wu, Yuanming
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6625147/
https://ncbi.nlm.nih.gov/pubmed/31199599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.687
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