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Albinism-Causing Mutations in Recombinant Human Tyrosinase Alter Intrinsic Enzymatic Activity

BACKGROUND: Tyrosinase (TYR) catalyzes the rate-limiting, first step in melanin production and its gene (TYR) is mutated in many cases of oculocutaneous albinism (OCA1), an autosomal recessive cause of childhood blindness. Patients with reduced TYR activity are classified as OCA1B; some OCA1B mutati...

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Detalhes bibliográficos
Main Authors: Dolinska, Monika B., Kovaleva, Elena, Backlund, Peter, Wingfield, Paul T., Brooks, Brian P., Sergeev, Yuri V.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3879332/
https://ncbi.nlm.nih.gov/pubmed/24392141
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0084494
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