| Literature DB >> 5173257 |
C J Witkop, J G White, W E Nance, C E Jackson, S Desnick.
Abstract
Genetic, tissue culture and ultrastructural studies demonstrate the heterogeneous nature of oculocutaneous albinism and a proposed classification based on these criteria is given. Six mutations are identified and the population frequencies of the common forms are determined. Some forms have, in addition to a pigment defect, abnormalities in platelets, glycolipids and chromosomes. In tyrosinase positive albinism, both in vitro and in vivo pigment formation can be induced by 1-tyrosine or 1-dopa.Entities:
Mesh:
Substances:
Year: 1971 PMID: 5173257
Source DB: PubMed Journal: Birth Defects Orig Artic Ser ISSN: 0547-6844