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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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Mol Genet Genomic Med
Main Authors: Lin, Ye, Chen, Xihui, Yang, Ying, Che, Fengyu, Zhang, Sijia, Yuan, Lijuan, Wu, Yuanming
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2019
Teme:
Online dostop: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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