Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC.
作者信息
Zaremba J, Kleijer W J, Huijmans J G, Poorthuis B, Fidzianska E, Glogowska I
机构信息
Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
出版信息
J Med Genet. 1992 Jul;29(7):514.
Abstract
摘要
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本文引用的文献
1
The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-alpha-glucoside N-acetyltransferase activity.
Clin Chim Acta. 1981 Apr 27;112(1):67-75. doi: 10.1016/0009-8981(81)90269-2.
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Prenatal diagnosis of Sanfilippo disease type B.
Hum Genet. 1984;66(4):287-8. doi: 10.1007/BF00287628.
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