Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Share to 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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.PMID 1970634Read ↗

Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.Semantic proximity Read ↗

Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).Semantic proximity Read ↗

Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.Semantic proximity Read ↗

Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.Semantic proximity Read ↗

Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.Semantic proximity Read ↗

Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.Semantic proximity Read ↗

Tyrosinase gene mutations causing oculocutaneous albinisms.Semantic proximity Read ↗

Mutation analysis of the tyrosinase gene in oculocutaneous albinism.Semantic proximity Read ↗

Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism.Semantic proximity Read ↗

Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.Semantic proximity Read ↗

Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).Semantic proximity Read ↗

A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.