Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.

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Article

Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.

American journal of human genetics - 1 Jun 1991

Giebel L B, Tripathi R K, Strunk K M, Hanifin J M, Jackson C E, King R A, Spritz R A

Abstract excerpt

We have identified three different tyrosinase gene mutant alleles in four unrelated patients with type IB ("yellow") oculocutaneous albinism (OCA) and thus have demonstrated that type IB OCA is allelic to type IA (tyrosinase negative) OCA. In an inbred Amish kindred, type IB OCA results from homozygosity for a Pro----Leu substitution at codon 406. In the second family, type IB OCA results from compound...

Topics

Albinism, Oculocutaneous
Alleles
Amino Acid Sequence
Base Sequence
Codon
HeLa Cells
Heterozygote
Homozygote
Humans
Molecular Sequence Data
Monophenol Monooxygenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nucleic Acid Hybridization

Oligonucleotide Probes

Pedigree

Polymerase Chain Reaction

Transfection

Source

Open in PubMed Open full text

Identifiers

PMID: 1903591
PMCID: PMC1683101

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1903591-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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