Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia

Atherosclerosis

Volumn 203, Issue 2, 2009, Pages 449-453

  Jelassi, A ^a   Jguirim, I ^a   Najah, M ^a   Abid, A M ^b   Boughamoura, L ^c   Maatouk, F ^b   Rouis, M ^d   Boileau, C ^d,e   Rabes J P ^d,e   Slimane, M N ^a   Varret, M ^d  

^a Faculty of Medecine   (Tunisia)

^b Institut National de Nutrition Tunis   (Tunisia)

^c FARHAT HACHED HOSPITAL   (Tunisia)

^d INSERM   (France)

^e CNRS   (France)

Author keywords

Familial hypercholesterolemia; LDLR gene; Novel mutations; Tunisian families

Indexed keywords

APOLIPOPROTEIN B; ARGININE; CYSTEINE; GLYCINE; LOW DENSITY LIPOPROTEIN RECEPTOR; LYSINE; SERINE; TRYPTOPHAN;

AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; COMPUTER PROGRAM; CONTROLLED STUDY; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; GENE ACTIVITY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; POPULATION; PREDICTION; PRIORITY JOURNAL; RESTRICTION MAPPING; TUNISIA;

ADOLESCENT; ADULT; AGED; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; RECEPTORS, LDL; TUNISIA;

EID: 62649160423     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2008.07.011     Document Type: Article

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