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Article

Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1).

Pigment cell research - 1 Oct 1994

Oetting W S, King R A

Abstract excerpt

Mutations of the tyrosinase gene associated with a partial or complete loss of enzymatic activity are responsible for tyrosinase related oculocutaneous albinism (OCA1). A large number of mutations have been identified and their analysis has provided insight into the biology of tyrosinase and the pathogenesis of these different mutations. Missense mutations produce their effect on the activity of an enzyme by...

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Identifiers

PMID: 7886000
DOI: 10.1111/j.1600-0749.1994.tb00629.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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