Niemann-Pick C1 disease: Correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop

American Journal of Human Genetics

Volumn 68, Issue 6, 2001, Pages 1373-1385

  Millat, Gilles ^a,b   MarÇais, Christophe ^b   Tomasetto, Catherine ^c   Chikh, Karim ^a,b   Fensom, Anthony H ^d   Harzer, Klaus ^e   Wenger, David A ^f   Ohno, K ^g   Vanier, Marie T ^a,b  

^a INSERM   (France)

^b CENTRE HOSPITALIER LYON SUD   (France)

^c INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^d GUY S HOSPITAL   (United Kingdom)

^e UNIVERSITY OF TÜBINGEN   (Germany)

^f THOMAS JEFFERSON UNIVERSITY   (United States)

^g TOTTORI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; CYSTEINE; MEMBRANE PROTEIN; MUTANT PROTEIN; PROTEIN NPC1; UNCLASSIFIED DRUG;

ALLELISM; ARTICLE; CHOLESTEROL TRANSPORT; CLINICAL ARTICLE; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; MISSENSE MUTATION; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; SKIN FIBROBLAST;

EID: 0034987798     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/320606     Document Type: Article

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