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
Matalon R, Deanching M, Marback R, Michals K
机构信息
University of Illinois, Department of Pediatrics, Chicago 60612.
出版信息
J Inherit Metab Dis. 1988;11(2):158-60. doi: 10.1007/BF01799865.
PMID:3139927
Abstract
In Sanfillipo A families, sulphamidase activities in leukocytes and cultured fibroblasts determined at 55 degrees C distinguish between heterozygote-carriers, normal individuals and the homozygotes.
摘要
在桑菲利波综合征A型家族中，在55摄氏度下测定的白细胞和培养成纤维细胞中的硫酸酯酶活性可区分杂合子携带者、正常个体和纯合子。
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