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Article

A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region.

Biochimica et biophysica acta - 24 Apr 1995

Wan Q, Schuchman E H

Abstract excerpt

Acid sphingomyelinase (ASM) is the lysosomal enzyme required to hydrolyze sphingomyelin into ceramide and phosphocholine. In man, a deficiency of this enzymatic activity leads to Types A and B Niemann-Pick disease (NPD), a panethnic disease with a relatively high incidence among Ashkenazi Jewish individuals. Analysis of the ASM cDNA and genomic sequences revealed a unique hexanucleotide sequence, CTGG(TC)(GT),...

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PMID: 7727545
DOI: 10.1016/0925-4439(95)00050-e

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