Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

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Article

Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

American journal of human genetics - 1 Dec 1993

Tripathi R K, Bundey S, Musarella M A, Droetto S, Strunk K M, Holmes S A, Spritz R A

Abstract excerpt

Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from mutations of the tyrosinase gene (TYR gene) encoding tyrosinase, the enzyme that catalyzes the first two steps of melan...

Topics

Adolescent
Adult
Albinism, Oculocutaneous
Amino Acid Sequence
Base Sequence
Child
Cloning, Molecular
Consanguinity
DNA Primers
Electrophoresis, Polyacrylamide Gel
Exons
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

India

Infant

Male

Molecular Sequence Data

Monophenol Monooxygenase

Source

Open in PubMed Open full text

Identifiers

PMID: 7902671
PMCID: PMC1682481

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7902671-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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