Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.

Human mutation

Volumn 24, Issue 1, 2004, Pages 105-

  Ricci, V ^a   Stroppiano, M ^a   Corsolini, F ^a   Di Rocco, M ^a   Parenti, G ^a   Regis, S ^a   Grossi, S ^a   Biancheri, R ^a   Mazzotti, R ^a   Filocamo, M ^a  

^a UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

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

ALLELE; ARTICLE; ENZYMOLOGY; EXON; FIBROBLAST; GENE FREQUENCY; GENETIC SCREENING; GENETICS; GENOTYPE; HUMAN; ITALY; LYMPHOCYTE; METHODOLOGY; MORTALITY; MUTATION; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD;

ALLELES; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FIBROBLASTS; GENE FREQUENCY; GENETIC SCREENING; GENOTYPE; HUMANS; ITALY; LYMPHOCYTES; MUTATION; NIEMANN-PICK DISEASES; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 19644392898     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9258     Document Type: Article

References (0)