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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引用本文的文献
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Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).跨膜蛋白76（TMEM76）基因突变导致黏多糖贮积症IIIC型（Sanfilippo C综合征）。
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The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients.微细胞介导的人类8号染色体转移可恢复IIIC型黏多糖贮积症患者皮肤成纤维细胞中缺乏的N - 乙酰转移酶活性。
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Second trimester prenatal diagnosis of Sanfilippo syndrome type C.孕中期产前诊断C型Sanfilippo综合征。
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本文引用的文献
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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.采用单糖和寡糖底物检测乙酰辅酶A：2-氨基-2-脱氧-α-葡萄糖苷N-乙酰转移酶活性来诊断桑菲利普综合征C型。
Clin Chim Acta. 1981 Apr 27;112(1):67-75. doi: 10.1016/0009-8981(81)90269-2.
2
Prenatal diagnosis of Sanfilippo disease type B.B型桑菲利波综合征的产前诊断
Hum Genet. 1984;66(4):287-8. doi: 10.1007/BF00287628.
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