[Spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism].

doi:10.3760/cma.j.issn.1003-9406.2020.07.006

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Article

[Spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2020

Wang Conghui, Chen Chen, Zhao Xuechao, Zhao Ganye, Liu Lina, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To determine the spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism (OCA). METHODS: A total of 405 OCA patients were collected. High-throughput sequencing (The panel included TYR, OCA2, TYRP1 and SLC45A2 genes), Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) were used to analyze the genetic variants and patterns of...

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PMID: 32619251
DOI: 10.3760/cma.j.issn.1003-9406.2020.07.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.