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Clin Genet. 1988 Jun;33(6):401-3.

Carrier detection in Sanfilippo A syndrome.

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1
Department of Pathology, British Columbia Children's Hospital, Vancouver, Canada.

Abstract

Leucocytes or fibroblasts from 10 obligate heterozygotes for Sanfilippo A syndrome gave decreased heparan N-sulphatase levels, using a modification of the method of Hall et al. (1978), which did not overlap normal control values. Five family members gave decreased values and are presumed heterozygotes.

PMID:
3139339
[Indexed for MEDLINE]
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