A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.

We have determined the mutations in the tyrosinase gene from 12 unrelated Puerto Rican individuals who have type I-A (tyrosinase-negative) oculocutaneous albinism (OCA). All but one individual are of Hispanic descent. Nine individuals were homozygous for a missense mutation (G47D) in exon I at codon...

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Autori principali: Oetting, W S, Witkop, C J, Brown, S A, Colomer, R, Fryer, J P, Bloom, K E, King, R A
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1993
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682128/
https://ncbi.nlm.nih.gov/pubmed/8434585
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