Genetic defects causing familial hypercholesterolaemia: Identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic

Atherosclerosis

Volumn 194, Issue 1, 2007, Pages 102-111

  Tosi, Isabella ^a   Toledo Leiva, Paola ^a   Neuwirth, Clare ^a,b   Naoumova, Rossi P ^a,b   Soutar, Anne K ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

APOB; Heterozygous FH; Homozygous FH; LDLRAP1; MLPA; PCSK9; Plasma cholesterol

Indexed keywords

CHOLESTEROL; GENOMIC DNA; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR;

APOB GENE; ARTICLE; ATHEROSCLEROSIS; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; CORONARY ARTERY DISEASE; FAMILIAL HYPERCHOLESTEROLEMIA; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LDLR GENE; LDLRAP1 GENE; LIPID LIVER LEVEL; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PCSK9 GENE; POINT MUTATION; PRIORITY JOURNAL; RECEPTOR GENE; SOUTHERN BLOTTING; TECHNIQUE; UNITED KINGDOM;

APOLIPOPROTEINS B; EXONS; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POINT MUTATION; RECEPTORS, LDL; SERINE ENDOPEPTIDASES;

EID: 34648860539     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2006.10.003     Document Type: Article

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