Genetic heterogeneity in Niemann-Pick C disease: A study using somatic cell hybridization and linkage analysis

American Journal of Human Genetics

Volumn 58, Issue 1, 1996, Pages 118-125

  Vanier, M T ^a,b,d   Duthel, S ^b   Rodriguez Lafrasse, C ^a   Pentchev, P ^c   Carstea, E D ^c  

^a CNRS   (France)

^b CENTRE HOSPITALIER LYON SUD   (France)

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

^d INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL;

ARTICLE; CELL HYBRIDIZATION; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENETIC COMPLEMENTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; HUMAN CELL; NIEMANN PICK DISEASE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0029655528     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Argoff CE, Comly ME, Blanchette-Mackie J, Kruth H, Pye HT, Goldin E, Kaneski C (1991) Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol. Biochim Biophys Acta 1096:319-327
2. Bowler, LM, Shankaran R, Das I, Callahan JW (1990) Cholesterol esterification and Niemann-Pick disease: an approach to identifying the defect in fibroblasts. J Neurosci Res 27: 505-511
3. Brul S, Westerveld A, Strijland A, Wanders RJA, Schram AW, Heymans HSA, Schutgens RBH, et al (1988) Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders: a study using complementation analysis. J Clin Invest 81:1710-1715
4. Cadigan KM, Spillane DM, Chang TY (1990) Isolation and characterization of Chinese hamster ovary cell mutants defective in intracellular low density lipoprotein cholesterol trafficking. J Cell Biol 110:295-308
5. Carstea ED, Parker CC, Fandino LB, Vanier MT, Overhauser J, Weissenbach J, Pentchev PG (1994) Localizing the Niemann-Pick C gene to 18q11-12. Am J Hum Genet Suppl 55:A182