Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations

Abstract Background Oculocutaneous albinism (OCA) is a human autosomal-recessive hypopigmentation disorder with hypopigmentation in the skin, hair, and eyes. OCA1 and OCA2 are caused by mutations of the TYR and OCA2 genes, respectively, which are responsible for most oculocutaneous albinism. However...

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Bibliographic Details
Main Authors: Qi Yang, Sheng Yi, Mengting Li, Bobo Xie, Jinsi Luo, Jin Wang, Xiuliang Rong, Qinle Zhang, Zailong Qin, Limei Hang, Shihan Feng, Xin Fan
Format: Article
Language:English
Published: BMC 2019-06-01
Series:BMC Medical Genetics
Subjects:
Oculocutaneous albinism
TYR
OCA2
Mutation
Chinese
Online Access:http://link.springer.com/article/10.1186/s12881-019-0842-7

Internet

http://link.springer.com/article/10.1186/s12881-019-0842-7

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