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Article

Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

Human genetics - 1 Nov 2003

King Richard A, Pietsch Jacy, Fryer James P, Savage Sarah, Brott Marcia J, Russell-Eggitt Isabelle, Summers C Gail, Oetting William S

Abstract excerpt

Oculocutaneous albinism (OCA) is a common human genetic condition resulting from mutations in at least twelve different genes. OCA1 results from mutations of the tyrosinase gene and presents with the life-long absence of melanin pigment after birth (OCA1A) or with the development of minimal-to-mo...

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Source

Identifiers

PMID: 13680365
DOI: 10.1007/s00439-003-0998-1

Genes

OCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-13680365-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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