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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Detalhes bibliográficos
Main Authors: Giebel, L B, Tripathi, R K, Strunk, K M, Hanifin, J M, Jackson, C E, King, R A, Spritz, R A
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683101/
https://ncbi.nlm.nih.gov/pubmed/1903591
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