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Carrier detection for Sanfilippo A syndrome
Author(s) -
Stone J.,
Brimble A.,
Pennock C. A.
Publication year - 1990
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799684
Subject(s) - obligate , human genetics , heterozygote advantage , biology , microbiology and biotechnology , medicine , genetics , gene , allele , ecology
Summary 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°C. At this assay temperature the results show an absolute distinction between heterozygous carriers and the normal controls.