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Am J Hum Genet. 1979 Jul;31(4):428-38.

Apparent hexosaminidase B deficiency in two healthy members of a pedigree.

Abstract

A family is described in which all members have decreased serum and leukocyte hexosaminidase activity. Two individuals, the mother and the younger daughter, have a normal ratio of hexosaminidase B (HEX B) to total hexosaminidase, but their serum enzymes display respectively partial or complete lability to heat. It is proposed that the proband is a double heterozygote for the Sandhoff allele and for an allele producing thermolabile beta subunits.

PMID:
484551
[PubMed - indexed for MEDLINE]
PMCID:
PMC1685885
Free PMC Article
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