TY - JOUR
T1 - Yellow mutant albinism
T2 - Cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism
AU - Hu, F.
AU - Hanifin, J. M.
AU - Prescott, G. H.
AU - Tongue, A. C.
PY - 1980
Y1 - 1980
N2 - 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.
AB - 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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M3 - Article
C2 - 6770679
AN - SCOPUS:0019252819
SN - 0002-9297
VL - 32
SP - 387
EP - 395
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 3
ER -