The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation.

Oculocutaneous albinism type 1 (OCA1) is an autosomal recessive disease resulting from mutations of the tyrosinase gene (TYR). To elucidate the molecular basis of OCA1 phenotypes, we analysed the early processing and maturation of several different types of mutant tyrosinase with various degrees of...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Toyofuku, K, Wada, I, Spritz, R A, Hearing, V J
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2001
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1221735/
https://ncbi.nlm.nih.gov/pubmed/11284711
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