Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.
Takahashi
T
T
Mount Sinai School of Medicine, New York, New York 10029.
Desnick
R J
RJ
Takada
G
G
Schuchman
E H
EH
D000328:Adult; D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D002478:Cells, Cultured; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D006801:Humans; D007564:Japan / Q000208:ethnology; D008214:Lymphocytes / Q000201:enzymology; D008969:Molecular Sequence Data; D009154:Mutation; D009542:Niemann-Pick Diseases / Q000201:enzymology / Q000235:genetics*; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012694:Serine; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics*
D009838:Oligodeoxyribonucleotides; D012694:Serine; D004247:DNA; D001120:Arginine; D013108:Sphingomyelin Phosphodiesterase