A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.

Type I oculocutaneous albinism (OCA) is an autosomal recessive disorder in which deficient synthesis of melanin pigment results from abnormal activity of melanocyte tyrosinase. A novel type I OCA phenotype in which hypopigmentation is related to local body temperature is associated with a missense s...

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Veröffentlicht in:	J Clin Invest
Hauptverfasser:	Giebel, L B, Tripathi, R K, King, R A, Spritz, R A
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	American Society for Clinical Investigation 1991
Schlagworte:	Research Article
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC329910/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1900309/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115075
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