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Carrier detection for Sanfilippo A syndrome.

Authors :
Stone J
Brimble A
Pennock CA
Source :
Journal of inherited metabolic disease [J Inherit Metab Dis] 1990; Vol. 13 (2), pp. 184-6.
Publication Year :
1990

Abstract

Leukocytes from 21 obligate carriers in 12 Sanfilippo A families and 49 normal controls were assayed for heparan sulphamidase (EC 3.10.1.1) at 55 degrees C. At this assay temperature the results show an absolute distinction between heterozygous carriers and the normal controls.

Details

Language :
English
ISSN :
0141-8955
Volume :
13
Issue :
2
Database :
MEDLINE
Journal :
Journal of inherited metabolic disease
Publication Type :
Academic Journal
Accession number :
2116549
Full Text :
https://doi.org/10.1007/BF01799684