A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

doi:10.1073/pnas.87.9.3255

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Article

A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

Proceedings of the National Academy of Sciences of the United States of America - 1 May 1990

Giebel L B, Strunk K M, King R A, Hanifin J M, Spritz R A

Abstract excerpt

We have identified a tyrosinase gene mutation in several patients with classic, tyrosinase-negative (type IA) oculocutaneous albinism. This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals. This mutation...

Topics

Albinism
Amino Acid Sequence
Base Sequence
Catechol Oxidase
Codon
Female
Genes
Genetic Linkage
Haplotypes
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Monophenol Monooxygenase

Mutation

Oligonucleotide Probes

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Source

Open in PubMed Open full text

Identifiers

PMID: 1970634
DOI: 10.1073/pnas.87.9.3255
PMCID: PMC53878

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1970634-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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