A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred

Journal of Lipid Research

Volumn 37, Issue 8, 1996, Pages 1761-1765

  Ries, Stefan ^a   Aslanidis, Charalampos ^a   Fehringer, Petra ^a   Carel, Jean Claude ^b   Gendrel, Dominique ^b   Schmitz, Gerd ^a  

^a UNIVERSITY OF REGENSBURG   (Germany)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

Author keywords

acid lipase; cholesterol metabolism; cholesteryl ester storage disease; exon skipping; genetic defect; lysosome; splice site mutation; Wolman disease

Indexed keywords

ACID LIPASE; CHOLESTEROL ESTERASE; DNA; DNA FRAGMENT; MESSENGER RNA;

ARTICLE; CASE REPORT; CHOLESTEROL ESTER STORAGE DISEASE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME INACTIVATION; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; LEUKOCYTE; MALE; MALI; PRIORITY JOURNAL; RNA SPLICING; SKIN FIBROBLAST; STOP CODON; WOLMAN DISEASE;

ALTERNATIVE SPLICING; BASE SEQUENCE; CELLS, CULTURED; DNA PRIMERS; FIBROBLASTS; HUMANS; INFANT; LIPASE; LYSOSOMAL STORAGE DISEASES; LYSOSOMES; MALI; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RNA, MESSENGER; WOLMAN DISEASE;

EID: 0029815627     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

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