A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP)

Human Mutation

Volumn 32, Issue 7, 2011, Pages 751-759

  Pons, Véronique ^a   Rolland, Corinne ^b,c,d   Nauze, Michel ^a   Danjoux, Marie ^e   Gaibelet, Gérald ^a   Durandy, Anne ^b   Sassolas, Agnès ^b   Lévy, Emile ^f   Tercé, François ^a   Collet, Xavier ^a   Mas, Emmanuel ^b,c,d,g  

^a University Hospital of Toulouse   (France)

^b INSERM   (France)

^c CNRS   (France)

^d UNIVERSITÉ PAUL SABATIER   (France)

^e CHU PURPAN   (France)

^f UNIVERSITY OF MONTREAL   (Canada)

^g HÔPITAL DES ENFANTS   (France)

Author keywords

Abetalipoproteinemia; Endoplasmic reticulum; Intestinal HDL; MTTP; Triglyceride transfer

Indexed keywords

ALANINE AMINOTRANSFERASE; APOLIPOPROTEIN A1; APOLIPOPROTEIN B; ASPARTATE AMINOTRANSFERASE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MESSENGER RNA; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN; PROTEIN DISULFIDE ISOMERASE; TRIACYLGLYCEROL; VERY LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ABETALIPOPROTEINEMIA; ARTICLE; CASE REPORT; CELL CULTURE; CELL STRAIN HEPG2; CHILD; DISEASE SEVERITY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ASSOCIATION; GENETIC TRANSFECTION; HELA CELL; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOGLOBULIN DEFICIENCY; MALE; PRIORITY JOURNAL; PROTEIN FUNCTION; RNA ANALYSIS; SPLICING DEFECT;

ABETALIPOPROTEINEMIA; AGAMMAGLOBULINEMIA; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; CARRIER PROTEINS; CHILD; ENDOPLASMIC RETICULUM; EXONS; FEMALE; HELA CELLS; HEP G2 CELLS; HUMANS; INFANT; MALE; MICROSOMES; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN BINDING; PROTEIN DISULFIDE-ISOMERASES; TRIGLYCERIDES;

EID: 79959720328     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21494     Document Type: Article

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