Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease

Molecular Medicine

Volumn 16, Issue 7-8, 2010, Pages 316-321

  Desnick, Jonathan P ^a   Kim, Jungmin ^a   He, Xingxuan ^a   Wasserstein, Melissa P ^a   Simonaro, Calogera M ^a   Schuchman, Edward H ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHODIESTERASE; SPHINGOMYELIN PHOSPHODIESTERASE 1; UNCLASSIFIED DRUG; SPHINGOMYELIN PHOSPHODIESTERASE; SPHINGOMYELIN PHOSPHODIESTERASE 1, HUMAN;

ADULT; ANIMAL CELL; ARTICLE; CHILD; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MUTANT; NEUROPROTECTION; NIEMANN PICK DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; WILD TYPE; AMINO ACID SEQUENCE; ANIMAL; CELL LINE; CHLOROCEBUS AETHIOPS; COS 1 CELL LINE; GENETIC TRANSFECTION; GENETICS; METABOLISM; MOLECULAR CLONING; MOLECULAR GENETICS; PHENOTYPE; SEQUENCE ALIGNMENT; WESTERN BLOTTING;

ADULT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BLOTTING, WESTERN; CELL LINE; CERCOPITHECUS AETHIOPS; CHILD; CHILD, PRESCHOOL; CLONING, MOLECULAR; COS CELLS; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NIEMANN-PICK DISEASE, TYPE A; NIEMANN-PICK DISEASE, TYPE B; PHENOTYPE; SEQUENCE ALIGNMENT; SPHINGOMYELIN PHOSPHODIESTERASE; TRANSFECTION;

EID: 77954279039     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.2119/molmed.2010.00017     Document Type: Article

References (11)

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