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

Benzer Materyaller

• Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.
  Yazar:: King, R A, ve diğerleri
  Baskı/Yayın Bilgisi: (1991)
• Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
  Yazar:: Tripathi, R K, ve diğerleri
  Baskı/Yayın Bilgisi: (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".
  Yazar:: Boissy, R. E., ve diğerleri
  Baskı/Yayın Bilgisi: (1996)
• Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type
  Yazar:: Hutton, Saunie M., ve diğerleri
  Baskı/Yayın Bilgisi: (2008)
• Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1)
  Yazar:: Ghodsinejad Kalahroudi, Vadieh, ve diğerleri
  Baskı/Yayın Bilgisi: (2014)