桑菲利波综合征A型的携带者检测。
Carrier detection for Sanfilippo A syndrome.
作者信息
Stone J, Brimble A, Pennock C A
机构信息
Department of Paediatric Chemical Pathology, Bristol Maternity Hospital, UK.
出版信息
J Inherit Metab Dis. 1990;13(2):184-6. doi: 10.1007/BF01799684.
PMID:2116549
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.
摘要
对12个Sanfilippo A家族的21名 obligate携带者和49名正常对照者的白细胞，在55摄氏度下测定了硫酸乙酰肝素酶（EC 3.10.1.1）活性。在此测定温度下，结果显示杂合子携带者与正常对照者之间有绝对差异。
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