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Article

Analysis of mutations in the copper B binding region associated with type I (tyrosinase-related) oculocutaneous albinism.

Pigment cell research - 1 Nov 1992

Oetting W S, King R A

Abstract excerpt

Mutations of the tyrosinase gene are responsible for type I (tyrosinase-related) oculocutaneous albinism (OCA), an autosomal recessive genetic syndrome with a broad phenotypic spectrum. Mutant tyrosinase alleles can be associated with no melanin synthesis (I-A, tyrosinase-negative OCA), small to moderate amounts of melanin (I-B, yellow OCA) or unusual pigment patterns (I-TS, temperature-sensitive OCA). A total of...

Topics

Albinism, Oculocutaneous
Alleles
Amino Acid Sequence
Base Sequence
Carrier Proteins
Computer Simulation
Copper
DNA
Histidine
Humans
Molecular Sequence Data
Monophenol Monooxygenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Phenotype

Sequence Homology, Amino Acid

Source

Identifiers

PMID: 1292009
DOI: 10.1111/j.1600-0749.1992.tb00549.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1292009-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Analysis of mutations in the copper B binding region associated with type I (tyrosinase-related) oculocutaneous albinism.PMID 1292009Read ↗

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

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