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Article

Molecular bases of tyrosinase-negative oculocutaneous albinism: a single base insertion or a missense point mutation in the tyrosinase gene.

Pigment cell research - 1 Jan 1992

Tomita Y, Takeda A, Matsunaga J, Okinaga S, Shibahara S, Tagami H

Abstract excerpt

We have identified two different mutations in the tyrosinase genes of Japanese patients with tyrosinase-negative oculocutaneous albinism (OCA). One is a single base insertion in the exon 2 of the tyrosinase gene that shifts the reading frame and introduces a premature termination codon (TGA) after the amino acid residue 298 (codon 316). The other is a G to A transition at residue 312, leading to a single amino...

Topics

Albinism, Oculocutaneous
Amino Acid Sequence
Animals
Base Sequence
DNA Mutational Analysis
Genes
Humans
Melanoma, Experimental
Mice
Molecular Sequence Data
Monophenol Monooxygenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Polymerase Chain Reaction

Promoter Regions, Genetic

Recombinant Fusion Proteins

Tumor Cells, Cultured

Source

Identifiers

PMID: 1409445
DOI: 10.1111/j.1600-0749.1990.tb00356.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1409445-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Molecular bases of tyrosinase-negative oculocutaneous albinism: a single base insertion or a missense point mutation in the tyrosinase gene.PMID 1409445Read ↗

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Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59.Semantic proximity Read ↗

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