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Article

[Early prenatal genetic diagnosis of oculocutaneous albinism type I in seven families].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2012

Wu Qinghua, Shi Hui-rong, Liu Ning, Lu Ning, Jiang Miao, Zhao Zhen-hua, Kong Xiang-dong

Abstract excerpt

OBJECTIVE: To evaluate the feasibility of genetic analysis of tyrosinase gene (TYR) in oculocutaneous albinism type I (OCA1). Mutation analysis and prenatal genetic diagnosis of TYR gene for seven pedigrees with OCA1 were performed. METHODS: PCR was used to amplify the exons, exon-intron boundaries and promoter of the TYR gene in the probands and/or their parents. The products were further analyzed by direct...

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Source

Identifiers

PMID: 22875490
DOI: 10.3760/cma.j.issn.1003-9406.2012.04.001

Genes

TYR

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Source receipt: pubmed, retrieved 7 Sept 2026.

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