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Article

Molecular analysis of Korean patients with oculocutaneous albinism.

Japanese journal of ophthalmology - 1 Jan 2012

Park Shin Hae, Chae Hyojin, Kim Yonggoo, Kim Myungshin

Abstract excerpt

PURPOSE: To perform molecular analysis of five Korean patients with oculocutaneous albinism (OCA) and review the clinical and genetic characteristics of 21 Korean OCA patients. METHODS: TYR, OCA2 and SLC45A2 were analyzed by direct DNA sequencing in five unrelated OCA patients who received thorough ophthalmic evaluation. RESULTS: We identified three different TYR mutations in three patients (c.929dupC, R278X, and...

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Share to Albinism, Oculocutaneous
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22042571
DOI: 10.1007/s10384-011-0098-z

Genes

OCA2
TYR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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