Literature DB >> 5173257

Classification of albinism in man.

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


  3 in total

1.  Type IV melanosomes of the human albino iris.

Authors:  A C McCartney; D J Spalton; T B Bull
Journal:  Br J Ophthalmol       Date:  1985-07       Impact factor: 4.638

2.  Albinism: phenotype or genotype?

Authors:  D B van Dorp; N J van Haeringen; J W Delleman; P Apkarian; W Westerhof
Journal:  Doc Ophthalmol       Date:  1983-12-15       Impact factor: 2.379

3.  Trysinase positive oculocutaneous albinism in the goldfish, Carassius auratus l., and ultrastructural and biochemical study of the eye.

Authors:  J Abramowitz; W A Turner; W Chavin; J D Taylor
Journal:  Cell Tissue Res       Date:  1977-08-26       Impact factor: 5.249

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.