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

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

Abstract 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 hig...

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Bibliographic Details
Main Authors: Ye Lin, Xihui Chen, Ying Yang, Fengyu Che, Sijia Zhang, Lijuan Yuan, Yuanming Wu
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
OCA2
Oculocutaneous albinism
prenatal diagnosis
SLC45A2
TYR
Online Access:https://doi.org/10.1002/mgg3.687

Internet

https://doi.org/10.1002/mgg3.687

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