Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts

Molecular Genetics and Metabolism

Volumn 75, Issue 4, 2002, Pages 325-334

  Wassif, Christopher A ^a   Vied, Donna ^a   Tsokos, Maria ^b   Connor, William E ^c   Steiner, Robert D ^d   Porter, Forbes D ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

LDL metabolism; Lysosomal inclusions; RSH syndrome; SLOS cholesterol synthesis; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; CELL PROTEIN; CHOLESTEROL; FILIPIN; LOW DENSITY LIPOPROTEIN; STEROL DERIVATIVE;

ARTICLE; CELL TYPE; CHOLESTEROL METABOLISM; CHOLESTEROL SYNTHESIS; CONTROLLED STUDY; ELECTRON MICROSCOPY; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; LYSOSOME; NIEMANN PICK DISEASE; PRIORITY JOURNAL; PROTEIN FUNCTION; SMITH LEMLI OPITZ SYNDROME; STAINING;

CELL LINE; CELLS, CULTURED; CHOLESTEROL; DEHYDROCHOLESTEROLS; FIBROBLASTS; FILIPIN; HUMANS; INCLUSION BODIES; LIPOPROTEINS, LDL; LYSOSOMES; MICROSCOPY, ELECTRON; SKIN; SMITH-LEMLI-OPITZ SYNDROME; STAINING AND LABELING;

EID: 0036354733     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00010-0     Document Type: Article

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