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Article

[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2014

Hu Hao, Wang Hua, Jia Zhengjun, Xie Qiong

Abstract excerpt

OBJECTIVE: To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). METHODS: Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through...

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Source

Identifiers

PMID: 25119903
DOI: 10.3760/cma.j.issn.1003-9406.2014.04.003

Genes

TYR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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