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

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

BackgroundTyrosinase-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 mel...

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Bibliographic Details
Main Authors: Linya Ma, Jianjian Zhu, Jing Wang, Yazhou Huang, Jibo Zhang, Chao Wang, Yuan Zhou, Dan Peng
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-10-01
Series:Frontiers in Genetics
Subjects:
OCA2 gene
missense variants
oculocutaneous albinism
next-generation sequencing
novel variants
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.715437/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.715437/full

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