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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1980 May;32(3):387–395.

Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism.

F Hu, J M Hanifin, G H Prescott, A C Tongue
PMCID: PMC1686057  PMID: 6770679

Abstract

This report describes three sisters, including monozygotic (MZ) twins, with clinical, ultrastructural, and histochemical features typical of yellow mutant albinism; This form of albinism is clinically similar to the tyrosinase-positive type, but hair bulbs showed (1) organelles similar to red hair pheomelanosomes and (2) absence of tyrosinase activity. Classical tyrosinase-negative albinism was found in a maternal cousin of the probands. Pedigree analysis of this family suggests multiple alleles occupying a single locus.

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Selected References

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