title: Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.
authors.affiliation: Mount Sinai School of Medicine, New York, New York 10029.
authors.forename: O
authors.initials: O
authors.lastname: Levran
authors.forename: R J
authors.initials: RJ
authors.lastname: Desnick
authors.forename: E H
authors.initials: EH
authors.lastname: Schuchman
mesh_terms: D001483:Base Sequence; D004247:DNA; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009542:Niemann-Pick Diseases / Q000201:enzymology / Q000235:genetics*; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics*
chemical_list: D004247:DNA; D013108:Sphingomyelin Phosphodiesterase