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Article

[Mutation screening of the TYR and P gene in three patients with oculocutaneous albinism].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2008

Dai Can, Li Wen, Gao Bodi, Li Lu-yun, Lu Guang-xiu

Abstract excerpt

OBJECTIVE: To identify the mutations of the tyrosinase gene (TYR) and P gene in patients with oculocutaneous albinism (OCA). METHODS: Polymerase chain reaction (PCR) and denaturing high performance liquid chromatography (DHPLC) were applied to detect the mutations in all exons of TYR gene and P gene. Then DNA sequencing and restriction endonuclease analysis were used to confirm the mutations detected by DHPLC....

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Source

Identifiers

PMID: 18683130

Genes

TYR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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