Zahed L.; Zahreddine H.; Noureddine B.; Rebeiz N.; Shakar N.; Zalloua P.; Haddad F.
(TOKYO3-3-13, HONGO, BUNKYO-KU, TOKYO, 113-0033, JAPAN, 2005)
Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme. A large number of mutations have been identified worldwide, ...