Familial ligand-defective apolipoprotein b-100: Simultaneous detection of the arg3500 → GLN and ARG3531→CYS mutations in a French population

Human Mutation

Volumn 10, Issue 2, 1997, Pages 160-163

  Rabes J P ^a,b   Varret, M ^a   Saint Jore, B ^a   Erlich, D ^c   Jondeau, G ^b   Krempf, M ^d   Giraudet, P ^b   Junien, C ^a,b   Boileau, C ^a,b,e  

^a INSERM   (France)

^b HÔPITAL AMBROISE PARÉ   (France)

^c SAINT LOUIS HOSPITAL   (France)

^d HÔTEL DIEU   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Coronary artery disease; Familial defective apolipoprotein B 100; Haplotype; Hereditary hypercholesterolemia; Mutation; PCR mediated site directed mutagenesis

Indexed keywords

APOLIPOPROTEIN B100; ARGININE; CYSTEINE; DNA; GLUTAMINE; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CORONARY ARTERY DISEASE; DYSLIPIDEMIA; FRANCE; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS;

ADULT; AGED; APOLIPOPROTEIN B-100; APOLIPOPROTEINS B; ARGININE; CORONARY DISEASE; CYSTEINE; DNA MUTATIONAL ANALYSIS; FEMALE; FRANCE; GENETIC SCREENING; GENETICS, POPULATION; GLUTAMINE; HETEROZYGOTE; HUMANS; HYPERCHOLESTEROLEMIA; MALE; MIDDLE AGED; MUTAGENESIS, SITE-DIRECTED; MUTATION; POLYMERASE CHAIN REACTION;

EID: 0030805141     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:2<160::AID-HUMU8>3.0.CO;2-O     Document Type: Article

References (8)

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