Associated Papers
The degradation of TYR variants derived from Chinese OCA families is mediated by the ERAD and ERLAD pathway.
Wang X et al.
Gene, 2025
Identification of 12 OCA Cases in Chinese Population and Two Novel Variants.
Zhong Z et al.
Frontiers in Genetics, 2022
35923705 (PubMed )
Supplement: DataSheet1.docx
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
Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.
Lin Y et al.
Molecular Genetics & Genomic Medicine, 2019
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
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