A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease.

Human mutation

Volumn 11, Issue 4, 1998, Pages 335-336

  Redonnet Vernhet, I ^a   Chatelut, M ^a   Salvayre, R ^a   Levade, T ^a  

^a CHU RANGUEIL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; TRIACYLGLYCEROL LIPASE;

ADULT; ARTICLE; CASE REPORT; CHOLESTEROL ESTER STORAGE DISEASE; ENZYMOLOGY; EXON; GENETICS; HETEROZYGOTE; HUMAN; LYSOSOME; MALE; METABOLISM; MIDDLE AGED; MUTATION; POINT MUTATION; RNA SPLICING;

ADULT; CHOLESTEROL ESTER STORAGE DISEASE; EXONS; HETEROZYGOTE; HUMANS; LIPASE; LYSOSOMES; MALE; MIDDLE AGED; MUTATION; POINT MUTATION; RNA SPLICING; RNA, MESSENGER;

EID: 0031626676     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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