APPARENT HEXOSAMINIDASE-B DEFICIENCY IN 2 HEALTHY MEMBERS OF A PEDIGREE
- 1 January 1979
- journal article
- research article
- Vol. 31 (4) , 428-438
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. The proband may be a double heterozygote for the Sandhoff allele and for an allele producing thermolabile .beta. subunits.This publication has 23 references indexed in Scilit:
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