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A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease
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作者 HUA Rong WU Hui +2 位作者 CUI Zhe CHEN Jin-xian WANG Zheng 《Chinese Medical Journal》 SCIE CAS CSCD 2012年第8期1511-1512,共2页
Type B Niemann-Pick disease is an autosomal recessive sphingolipidosis due to mutations in the sphingomyelin phosphodiesterase 1 gene (SMPD1), Here we present molecular findings for two sibling patients. One mutatio... Type B Niemann-Pick disease is an autosomal recessive sphingolipidosis due to mutations in the sphingomyelin phosphodiesterase 1 gene (SMPD1), Here we present molecular findings for two sibling patients. One mutation V36A due to c.107T〉C in exon 1 is a single nucleotide polymorphism and the other N522S due to c.1565 A〉G in exon 6 is a novel missense mutation. This non-fatal missense mutation leads to -20% residual lysosomal acid sphingomyelinase activity in vitro and only results in hepatosplenomegaly without neurologic involvement, 展开更多
关键词 type B Niemann-Pick disease sphingomyelin phosphodiesterase 1 gene lysosomal acid sphingomyelinase HEPATOSPLENOMEGALY SPLENECTOMY
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