Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia

Human Mutation

Volumn 9, Issue 5, 1997, Pages 437-444

  Jensen, Henrik K ^a,b   Jensen, Thomas G ^b   Faergeman, Ole ^a   Jensen, Lillian G ^a,b   Andresen, Brage S ^a   Corydon, Morten J ^a   Andreasen, Per H ^a   Hansen, Peter S ^a   Heath, Finn ^c   Bolund, Lars ^b   Gregersen, Niels ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c Aarhus Amtssygehus Univ Hospital ^*

Author keywords

familial hypercholesterolemia; genetics; mutations; SSCP analysis; transfection

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; MESSENGER RNA;

ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; DNA SEQUENCE; FAMILIAL HYPERCHOLESTEROLEMIA; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR CLONING; NONHUMAN; NORTHERN BLOTTING; PEDIGREE; PRIORITY JOURNAL; RECEPTOR GENE; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALLELES; ANIMALS; COS CELLS; FEMALE; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, LDL; SEQUENCE DELETION;

ANIMALIA;

EID: 16944365925     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:5<437::AID-HUMU10>3.0.CO;2-3     Document Type: Article

References (7)

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