Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations

Human Genetics

Volumn 109, Issue 1, 2001, Pages 24-32

  Ribeiro, I ^a   Marcao A ^a   Amaral, O ^a   Sa Miranda M C ^a   Vanier, M T ^a   Millat, G ^a  

^a CENTRE HOSPITALIER LYON SUD   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; CYSTEINE;

ALLELE; ARTICLE; BIOCHEMISTRY; CELL LEVEL; CHOLESTEROL METABOLISM; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CORRELATION FUNCTION; DISEASE ASSOCIATION; DISEASE SEVERITY; DISORDERS OF CHOLESTEROL METABOLISM; ENDOSOME; FAMILIAL INCIDENCE; FIBROBLAST; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LYSOSOME; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POPULATION RESEARCH; PORTUGAL; PRIORITY JOURNAL; WESTERN BLOTTING;

ADULT; BASE SEQUENCE; BIOLOGICAL TRANSPORT, ACTIVE; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NIEMANN-PICK DISEASES; PHENOTYPE;

EID: 0034903931     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100531     Document Type: Article

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