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Article

Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

PloS one - 1 Jan 2014

Ghodsinejad Kalahroudi Vadieh, Kamalidehghan Behnam, Arasteh Kani Ahoura, Aryani Omid, Tondar Mahdi, Ahmadipour Fatemeh, Chung Lip Yong, Houshmand Massoud

Abstract excerpt

Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin. In this study, mutations in the TYR gene of 30 unrelated Iranian OCA1 patients and 100 healthy individuals were...

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Source

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Identifiers

PMID: 25216246
DOI: 10.1371/journal.pone.0106656
PMCID: PMC4162572

Genes

TYR

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).PMID 25216246Read ↗

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