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Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.

Several types of autosomal recessive oculocutaneous albinism (OCA) are associated with abnormal tyrosinase function and a generalized reduction in or absence of cutaneous and eye melanin. Each is thought to result from a different mutant allele at the tyrosinase locus, with the mutation producing an...

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Udgivet i:J Clin Invest
Principais autores: King, R A, Townsend, D, Oetting, W, Summers, C G, Olds, D P, White, J G, Spritz, R A
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 1991
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC329899/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1900307/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115064
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