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Article

[Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients].

Zhongguo ying yong sheng li xue za zhi = Zhongguo yingyong shenglixue zazhi = Chinese journal of applied physiology - 1 Aug 2011

Zheng Hui, Huang Zhi-gang, Wen Ren-qing, Li Hong-yi

Abstract excerpt

OBJECTIVE: To explore the patients' genotypes and the mutation spectrum of Tyrosinase (TYR) gene and the effects on protein structure and function in oculocutaneous albinism type 1 (OCA1). METHODS: The polymerase chain reaction (PCR) and sequencing techniques were applied to amplify and analyze the regions of exon, exonintron and promoter of TYR gene of 15 OCA1 probands and some of their parents. The protein...

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Identifiers

PMID: 22097729

Genes

TYR

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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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