Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.

Mutations in the gene for the pigment-producing enzyme tyrosinase are responsible for type IA (tyrosinase-negative) oculocutaneous albinism (OCA). Most reported mutations have been single base substitutions. We now report three different frameshift mutations in three unrelated individuals with type...

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Détails bibliographiques
Auteurs principaux: Oetting, W S, Mentink, M M, Summers, C G, Lewis, R A, White, J G, King, R A
Format: Artigo
Langue:Inglês
Publié: 1991
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683219/
https://ncbi.nlm.nih.gov/pubmed/1905879
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