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Case Reports
. 1991 Jul;28(7):464-7.
doi: 10.1136/jmg.28.7.464.

A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism

L B Giebel  1 , M A Musarella, R A Spritz
Affiliations
Case Reports

A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism

L B Giebel et al. J Med Genet. 1991 Jul.

Abstract

We detected a nonsense mutation in the tyrosinase gene of two Afghan sibs with classical tyrosinase negative (type IA) oculocutaneous albinism. The mutation, a single base substitution at codon 178, creates an amber termination codon that truncates the 529 amino acid tyrosinase polypeptide at this position. The patients' parents are first cousins, and the patients are therefore homoallelic for this mutation.

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References

    1. J Exp Med. 1989 Jun 1;169(6):2029-42 - PubMed
    1. Science. 1988 Jan 29;239(4839):487-91 - PubMed
    1. Tohoku J Exp Med. 1988 Dec;156(4):403-14 - PubMed
    1. Proc Natl Acad Sci U S A. 1987 Nov;84(21):7473-7 - PubMed
    1. Genomics. 1988 Jul;3(1):17-24 - PubMed

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