Murine model of Niemann-Pick C disease: Mutation in a cholesterol homeostasis gene

Science

Volumn 277, Issue 5323, 1997, Pages 232-235

  Loftus, Stacie K ^a   Morris, Jill A ^a   Carstea, Eugene D ^b   Gu, Jessie Z ^a   Cummings, Christiano ^b   Brown, Anthony ^b   Ellison, Jane ^a   Ohno, Kousaku ^c   Rosenfeld, Melissa A ^a   Tagle, Danilo A ^a   Pentchev, Peter G ^b   Pavan, William J ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c TOTTORI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE;

ANIMAL TISSUE; ARTICLE; CHOLESTEROL METABOLISM; CONTROLLED STUDY; GENE ISOLATION; GENE MUTATION; HEMOSTASIS; MOUSE; NIEMANN PICK DISEASE; NONHUMAN; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHOLESTEROL; DISEASE MODELS, ANIMAL; HOMEOSTASIS; HUMANS; HYDROXYMETHYLGLUTARYL COA REDUCTASES; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LYSOSOMES; MEMBRANE PROTEINS; MICE; MICE, INBRED BALB C; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; MUTATION; NIEMANN-PICK DISEASES; PHENOTYPE; PROTEIN SORTING SIGNALS; PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID;

ANIMALIA; CAENORHABDITIS ELEGANS; ERINACEIDAE; MURINAE; SACCHAROMYCES CEREVISIAE;

EID: 0030768084     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.277.5323.232     Document Type: Article

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