Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early onset chylomicronemia

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Foubert, Luc ^a,b   Gennes, Jean Luc De ^b   Benlian, Pascale ^a,c   Truffert, Jacqueline ^b   Miao, Li ^a   Hayden, Michael R ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c HÔPITAL SAINT ANTOINE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHYLOMICRON; LIPOPROTEIN LIPASE; DNA; LIPID; LIPOPROTEIN;

ABDOMINAL PAIN; ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; FAILURE TO THRIVE; FEMALE; FRAMESHIFT MUTATION; GENETIC ANALYSIS; HEPATOSPLENOMEGALY; HETEROZYGOTE DETECTION; HUMAN; HYPERLIPOPROTEINEMIA; ONSET AGE; PRIORITY JOURNAL; XANTHOMA; AMINO ACID SEQUENCE; BLOOD; CHEMISTRY; ENZYMOLOGY; GENE DELETION; GENETICS; HETEROZYGOTE; HYPERLIPOPROTEINEMIA TYPE 1; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ADOLESCENT; AGE OF ONSET; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE I; LIPIDS; LIPOPROTEIN LIPASE; LIPOPROTEINS; SEQUENCE DELETION;

EID: 0031975895     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110148     Document Type: Article

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