Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.

Human mutation

Volumn 24, Issue 2, 2004, Pages 186-187

  Pittis, M G ^a   Ricci, V ^a   Guerci, V I ^a   Marcais C ^a   Ciana, G ^a   Dardis, A ^a   Gerin, F ^a   Stroppiano, M ^a   Vanier, M T ^a   Filocamo, M ^a   Bembi, B ^a  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACID SPHINGOMYELINASE 1; ACID SPHINGOMYELINASE-1; SPHINGOMYELIN PHOSPHODIESTERASE;

ADOLESCENT; ADULT; ANIMAL; ARTICLE; CAENORHABDITIS ELEGANS; CHILD; COMPARATIVE STUDY; ENZYMOLOGY; FEMALE; FRAMESHIFT MUTATION; GENETICS; HUMAN; INFANT; ITALY; MALE; MIDDLE AGED; MOUSE; MUTATION; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRESCHOOL CHILD; START CODON;

ADOLESCENT; ADULT; ANIMALS; CAENORHABDITIS ELEGANS; CHILD; CHILD, PRESCHOOL; CODON, INITIATOR; CONSERVED SEQUENCE; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT; ITALY; MALE; MICE; MIDDLE AGED; MUTATION; NIEMANN-PICK DISEASES; POINT MUTATION; READING FRAMES; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 6044238051     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9263     Document Type: Article

References (0)