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    Clin Chim Acta. 1994 Jun;227(1-2):17-22.

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

    Breimer LH, Winder AF, Jay B, Jay M.

    Department of Chemical Pathology and Human Metabolism, Royal Free Hospital School of Medicine, London, UK.

    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 methionine to a threonine residue; (3) a cytosine to thymine transition at codon 367 changes a histidine to a tyrosine residue. A codon 402 change previously considered a polymorphism is assigned a pathological role.

    PMID: 7955413 [PubMed - indexed for MEDLINE]

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