Associated Papers
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.
Hao C et al.
Communications Medicine, 2025
Oculocutaneous albinism in a patient with an OCA2 variant: molecular and clinical insights.
Neissi M et al.
Asian Biomedicine : Research, Reviews and News, 2025
The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.
Zhang X et al.
Human Genomics, 2024
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-s002.xlsx › Supplementary_Table_2
Structural insights into pink-eyed dilution protein (Oca2).
Mesdaghi S et al.
Bioscience Reports, 2023
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.
Xiao Y et al.
Bmc Genomics, 2022
A new type of oculocutaneous albinism with a novel OCA2 mutation.
Lee SY et al.
Yeungnam University Journal of Medicine, 2021
Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.
Xu C et al.
Journal of Clinical Laboratory Analysis, 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
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
Wang Y et al.
Plos One, 2015
An intracellular anion channel critical for pigmentation.
Bellono NW et al.
Elife, 2014
Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families.
Hongyi L et al.
Prenatal Diagnosis, 2007
[Prenatal diagnosis of oculocutaneous albinism type II and discovery of two novel mutations].
Li HY et al.
Zhonghua Yi Xue Za Zhi, 2007
[Prenatal gene diagnosis of oculocutaneous albinism type I].
Li HY et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
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