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Article

[An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].

Biomedica : revista del Instituto Nacional de Salud - 1 Jun 2012

Sanabria Diana, Groot Helena, Guzmán Julio, Lattig María Claudia

Abstract excerpt

INTRODUCTION: Oculocutaneus albinism is a pigment-related inherited disorder characterized by hypopigmentation of the skin, hair and eyes, foveal hypoplasia and low vision. To date, 230 mutations in the TYR gene have been reported as responsible for oculocutaneus albinism type 1 worldwide. TYR gene encodes the enzyme tyrosinase involved in the metabolic pathway of melanin synthesis. OBJECTIVES: Mutations were...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23242301
DOI: 10.1590/S0120-41572012000300015

Genes

TYR

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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