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. 1979 Jul;31(4):428–438.

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

P Hechtman, A Rowlands
PMCID: PMC1685885  PMID: 484551

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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