A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

We have identified a tyrosinase gene mutation in several patients with classic, tyrosinase-negative (type IA) oculocutaneous albinism. This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocut...

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Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	Giebel, L B, Strunk, K M, King, R A, Hanifin, J M, Spritz, R A
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 1990
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC53878/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1970634/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.87.9.3255
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