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Article

Mutations of the tyrosinase gene in oculocutaneous albinism.

Pigment cell research - 1 Nov 1992

Shibahara S

Abstract excerpt

Since our first report showing that the phenotype of tyrosinase-negative or type IA oculocutaneous albinism (OCA) is a consequence of a mutation in the tyrosinase gene (Tomita et al., Biochem. Biophys. Res. Commun., 164:990-996, 1989), a number of mutations were found in the tyrosinase gene of OCA patients. However, to establish the molecular basis of OCA in each patient, we must carry out several important...

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Identifiers

PMID: 1292010
DOI: 10.1111/j.1600-0749.1992.tb00550.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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