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Article

Initiation codon mutation of the tyrosinase gene as a cause of human albinism.

Clinica chimica acta; international journal of clinical chemistry - 1 Jun 1994

Breimer L H, Winder A F, Jay B, Jay M

Abstract excerpt

Direct DNA sequence determination of PCR amplified exons of the tyrosinase gene of three British patients suffering from tyrosinase negative oculocutaneous albinism has revealed three new missense point mutations: (1) an adenine to guanine transition at codon 1 changes the initiating methionine codon into a valine codon thereby abolishing translation; (2) a thymine to cytosine transition at codon 370 changes a...

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PMID: 7955413
DOI: 10.1016/0009-8981(94)90131-7

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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.

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