Literature DB >> 5173133

Genetic and biochemical evidence for two forms of oculocutaneous albinism in man.

W E Nance, C J Witkop, R F Rawls.   

Abstract

Previous evidence for the existence of at least two genetically distinct forms of generalized oculocutaneous albinism was confirmed by the observation of a mating between two Negro albinos who had a normally pigmented daughter. Extensive blood typing provided no evidence for nonpaternity. Clinical and biochemical differences in the two types of albinism found in this family should permit easy recognition of these entities, although in Caucasians the two phenotypes may be quite similar.

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Year:  1971        PMID: 5173133

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  3 in total

1.  1992 American Society of Human Genetics presidential address: back to the future.

Authors:  W E Nance
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

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.  Hermansky-Pudlak syndrome: albinism with lipofuscin storage.

Authors:  W R Fagadau; M H Heinemann; E Cotlier
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

  3 in total

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