Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia

Gene

Volumn 512, Issue 1, 2013, Pages 28-34

  Magnolo, Lucia ^a   Najah, Mohamed ^b   Fancello, Tatiana ^a   Di Leo, Enza ^a   Pinotti, Elisa ^a   Brini, Ines ^c   Gueddiche, Neji M ^d   Calandra, Sebastiano ^a   Slimene, Naceur M ^b   Tarugi, Patrizia ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF MONASTIR   (Tunisia)

^c CHILDREN S HOSPITAL   (Tunisia)

^d FATTOUMA BOURGUIBA UNIVERSITY HOSPITAL   (Tunisia)

Author keywords

Abetalipoproteinemia; Chylomicron retention disease; MTTP gene; SAR1B gene; Tunisian children

Indexed keywords

ALPHA TOCOPHEROL; APOLIPOPROTEIN B; CHYLOMICRON; COMPLEMENTARY DNA; FAT DROPLET; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MESSENGER RNA; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN; PROTEIN; RETINOL; SAR1B PROTEIN; UNCLASSIFIED DRUG;

ABDOMINAL DISTENSION; ABETALIPOPROTEINEMIA; AMINO ACID SUBSTITUTION; ARM EDEMA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CATARACT; CELL VACUOLE; CHILD; CHOLESTEROL BLOOD LEVEL; CHRONIC DIARRHEA; CHYLOMICRON RETENTION DISEASE; CONSANGUINEOUS MARRIAGE; DEHYDRATION; DELAYED PUBERTY; DOMINANT INHERITANCE; DUODENUM BIOPSY; DUODENUM MUCOSA; EXON SKIPPING; FAILURE TO THRIVE; FAMILIAL HYPOBETALIPOPROTEINEMIA; FEMALE; FEVER; GASTROINTESTINAL ENDOSCOPY; GENE EXPRESSION; GENE MUTATION; GROWTH RETARDATION; HISTOLOGY; HUMAN; HYPOBETALIPOPROTEINEMIA; HYPOTROPHY; IN VITRO STUDY; INFANT; INHERITANCE; INTESTINE BIOPSY; INTESTINE CELL; INTRON; INTRON RETENTION; LEG EDEMA; LIPID ABSORPTION; LIPID BLOOD LEVEL; LIPID STORAGE; LIPOPROTEIN SECRETION; LOW FAT DIET; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN FUNCTION; RNA TRANSLATION; SCHOOL CHILD; TUNISIA; VISUAL DISORDER; VITAMIN SUPPLEMENTATION; VOMITING;

ABETALIPOPROTEINEMIA; ADOLESCENT; ADULT; ANGIOPOIETINS; APOLIPOPROTEINS B; BASE SEQUENCE; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; HUMANS; HYPOBETALIPOPROTEINEMIAS; INFANT; LIPIDS; MALABSORPTION SYNDROMES; MIDDLE AGED; MONOMERIC GTP-BINDING PROTEINS; MUTATION; PROPROTEIN CONVERTASES; SERINE ENDOPEPTIDASES; TUNISIA; YOUNG ADULT;

EID: 84868609652     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.09.117     Document Type: Article

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