Article
Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
Human mutation - 1 Aug 2004
Pittis M G, Ricci V, Guerci V I, Marçais C, Ciana G, Dardis A, Gerin F, Stroppiano M, Vanier M T, Filocamo M, Bembi B
Abstract excerpt
Niemann Pick disease (NPD) is an autosomal recessive disorder due to the deficit of lysosomal acid sphingomyelinase, which results in intracellular accumulation of sphingomyelin. In the present work we studied 18 patients with NPD type B, including five individuals who presented an intermediate phenotype characterised by different levels of neurological involvement. We identified nine novel mutations in the SMPD1...
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