Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease

Molecular Genetics and Metabolism

Volumn 68, Issue 3, 1999, Pages 333-345

  Anderson, Richard A ^a   Bryson, Greta M ^a   Parks, John S ^a  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

Acid cholesterol esterase; Cholesterol ester storage disease; Cholesterol metabolism; Diagnosis; Lipid storage disease; Lysosomal acid lipase; Lysosomal hydrolase; Wolman disease

Indexed keywords

ACID LIPASE; CHOLESTEROL ESTER; ESTERASE; LYSOSOME ENZYME; MESSENGER RNA; NUCLEOTIDE;

ADULT; ARTICLE; CHILD; CHOLESTEROL ESTER STORAGE DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; FIBROBLAST; GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; INFANT; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA SPLICING; STRUCTURAL GENE; WOLMAN DISEASE;

EID: 0032743344     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2904     Document Type: Article

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