Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.

We have identified three different tyrosinase gene mutant alleles in four unrelated patients with type IB ("yellow") oculocutaneous albinism (OCA) and thus have demonstrated that type IB OCA is allelic to type IA (tyrosinase negative) OCA. In an inbred Amish kindred, type IB OCA results fr...

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Autores principales: Giebel, L B, Tripathi, R K, Strunk, K M, Hanifin, J M, Jackson, C E, King, R A, Spritz, R A
Formato: Artigo
Lenguaje:Inglês
Publicado: 1991
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683101/
https://ncbi.nlm.nih.gov/pubmed/1903591
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