Associated Papers
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B et al.
Molecular Genetics & Genomic Medicine, 2024
37882226 (PubMed )
Supplement: MGG3-12-e2297-s001.xlsx › Sheet1
Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.
Ma L et al.
Frontiers in Genetics, 2021
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.
Zhong Z et al.
Pigment Cell & Melanoma Research, 2019
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
Wei A et al.
The Journal of Investigative Dermatology, 2010
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