Alleged detrimental mutations in the SMPD1 gene in patients with Niemann-Pick disease

International Journal of Molecular Sciences

Volumn 16, Issue 6, 2015, Pages 13649-13652

  Rhein, Cosima ^a   Mühle, Christiane ^a   Kornhuber, Johannes ^a   Reichel, Martin ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Gene variant; Missense mutation; Niemann pick disease; Polymorphism; Sphingomyelin phosphodiesterase

Indexed keywords

SPHINGOMYELIN PHOSPHODIESTERASE;

ARTICLE; DISEASE PREDISPOSITION; ENZYME ACTIVITY; EXPRESSION VECTOR; GENE; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HELA CELL LINE; HUMAN; LOSS OF FUNCTION MUTATION; NIEMANN PICK DISEASE; SERIAL ANALYSIS OF GENE EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; SMPD1 GENE; TRANSIENT TRANSFECTION; GENETICS; MUTATION;

HUMANS; MUTATION; NIEMANN-PICK DISEASE, TYPE A; NIEMANN-PICK DISEASE, TYPE B; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 84934976407     PISSN: 16616596     EISSN: 14220067     Source Type: Journal    
DOI: 10.3390/ijms160613649     Document Type: Article

References (9)

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