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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Udgivet i:J Med Genet
Main Authors: Giebel, L B, Musarella, M A, Spritz, R A
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 1991
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016956/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1832718/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.7.464
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