Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from mutations of the tyrosinase gene (TYR gene) encoding tyrosinase, the enzyme that catalyzes the first two steps of melanin...

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Hauptverfasser: Tripathi, R K, Bundey, S, Musarella, M A, Droetto, S, Strunk, K M, Holmes, S A, Spritz, R A
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1993
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682481/
https://ncbi.nlm.nih.gov/pubmed/7902671
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