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Article

Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.

Human mutation - 1 Feb 2004

Rundshagen Uta, Zühlke Christine, Opitz Sven, Schwinger Eberhard, Käsmann-Kellner Barbara

Abstract excerpt

Oculocutaneous albinism (OCA) is caused by a deficiency of melanin synthesis and characterized by generalized hypopigmentation of skin, hair, and eyes. Due to the hypopigmentation of the retinal pigment epithelium, OCA is usually associated with congenital visual impairment, in addition to an inc...

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Source

Identifiers

PMID: 14722913
DOI: 10.1002/humu.10311

Genes

OCA2
TYR
TYRP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14722913-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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