Genetic and biochemical evidence for two forms of oculocutaneous albinism in man.
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.
D000417:Albinism / Q000145:classification* / Q000235:genetics; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006197:Hair / Q000187:drug effects; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014443:Tyrosine / Q000494:pharmacology
D014443:Tyrosine