title: Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B.
authors.affiliation: Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Ida
authors.forename: O M
authors.initials: OM
authors.lastname: Rennert
authors.forename: K
authors.initials: K
authors.lastname: Maekawa
authors.forename: Y
authors.initials: Y
authors.lastname: Eto
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D005091:Exons; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009542:Niemann-Pick Diseases / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics*
chemical_list: D013108:Sphingomyelin Phosphodiesterase