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

Eitemau Tebyg

• Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.
  gan: King, R A, et al.
  Cyhoeddwyd: (1991)
• Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
  gan: Tripathi, R K, et al.
  Cyhoeddwyd: (1993)
• Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3".
  gan: Boissy, R. E., et al.
  Cyhoeddwyd: (1996)
• Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type
  gan: Hutton, Saunie M., et al.
  Cyhoeddwyd: (2008)
• Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1)
  gan: Ghodsinejad Kalahroudi, Vadieh, et al.
  Cyhoeddwyd: (2014)