Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B.
Ida
H
H
Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan.
Rennert
O M
OM
Maekawa
K
K
Eto
Y
Y
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*
D013108:Sphingomyelin Phosphodiesterase