Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.
Levran
O
O
Mount Sinai School of Medicine, New York, New York 10029.
Desnick
R J
RJ
Schuchman
E H
EH
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*
D004247:DNA; D013108:Sphingomyelin Phosphodiesterase