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

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 p...

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Autors principals: Giebel, L B, Musarella, M A, Spritz, R A
Format: Artigo
Idioma:Inglês
Publicat: 1991
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016956/
https://ncbi.nlm.nih.gov/pubmed/1832718
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