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Article

Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

American journal of human genetics - 1 Apr 1994

Gershoni-Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi R K, Spritz R A

Abstract excerpt

We have analyzed the tyrosinase (TYR) gene in 38 unrelated patients with oculocutaneous albinism (OCA), derived from several different ethnic groups of the diverse population of Israel. We detected TYR gene mutations in 23 of the 34 patients with apparent type I (i.e., tyrosinase-deficient) OCA and in none of the patients with other clinical forms of albinism. Among Moroccan Jews with type IA (i.e.,...

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Identifiers

PMID: 8128955
PMCID: PMC1918101

Genes

TYR

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Source receipt: pubmed, retrieved 7 Sept 2026.

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