A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family

Clinica Chimica Acta

Volumn 392, Issue 1-2, 2008, Pages 25-29

  Jelassi, A ^a   Najah, M ^a   Jguirim, I ^a   Maatouk, F ^b   Lestavel, S ^c   Laroussi, O S ^d   Rouis, M ^c   Boileau, C ^c,e   Rabes J P ^c,e   Varret, M ^c   Slimane, M N ^a  

^a Faculty of Medecine   (Tunisia)

^b FATTOUMA BOURGUIBA UNIVERSITY HOSPITAL   (Tunisia)

^c INSERM   (France)

^d Mednine Hostpital ^*  (Tunisia)

^e LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

Author keywords

Familial hypercholesterolemia; Low density lipoprotein receptor; New splice site mutation; Tunisian

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR; PROPROTEIN CONVERTASE 1; SUBTILISIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL CULTURE; CLINICAL ARTICLE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; INTRON; LYMPHOCYTE; MALE; PRIORITY JOURNAL; PROMOTER REGION; RECEPTOR GENE; REVERSE TRANSCRIPTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SEQUENCE; RNA SPLICING; SKIN FIBROBLAST; TUNISIA;

ADULT; AGED; APOLIPOPROTEINS B; CELLS, CULTURED; FAMILY; FEMALE; FIBROBLASTS; HUMANS; HYPERCHOLESTEROLEMIA; INTRONS; MALE; MIDDLE AGED; MUTATION; RECEPTORS, LDL; RNA SPLICE SITES; TUNISIA;

EID: 43049113883     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2008.02.019     Document Type: Article

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