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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Tripathi, R K, Bundey, S, Musarella, M A, Droetto, S, Strunk, K M, Holmes, S A, Spritz, R A
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682481/
https://ncbi.nlm.nih.gov/pubmed/7902671
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados