Article
Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan.
Human mutation - 1 Dec 1999
Tsai C H, Tsai F J, Wu J Y, Lin S P, Chang J G, Yang C F, Lee C C
Abstract excerpt
Type I oculocutaneous albinism (OCA1) is an autosomal recessive disorder, which is caused by the reduction or the absence of tyrosinase activity in melanocytes of the skin, hair and eyes. Although tyrosinase mutations of OCA1 have been extensively analyzed in most populations worldwide, there is no systemic study of OCA1 mutation in Chinese patients. By use of single strand conformation polymorphism and direct...
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