Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population

European Journal of Human Genetics

Volumn 11, Issue 12, 2003, Pages 959-965

  Real, José T ^a   Chaves, Felipe J ^b   Ejarque, Ismael ^a   Garía García, Ana B ^b   Valldecabres, Carmen ^a   Ascaso, Juan F ^a   Armengod, María E ^b   Carmena, Rafael ^a  

^a HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^b CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

Author keywords

Familial ligand defective apoB 100; Genetic diagnosis; Heterozygous familial hypercholesterolemia; LDL receptor gene mutations; Lipoprotein phenotype; R3500Q mutation

Indexed keywords

APOLIPOPROTEIN B; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; ARTICLE; CHOLESTEROL BLOOD LEVEL; CLINICAL PROTOCOL; CONTROLLED STUDY; DIAGNOSTIC TEST; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; LIGAND BINDING; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; PATHOGENESIS; PATIENT CODING; PHENOTYPE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; PROTEIN DOMAIN; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; SOUTHERN EUROPE; SPAIN;

ADOLESCENT; ADULT; APOLIPOPROTEINS B; EUROPE; HUMANS; HYPERCHOLESTEROLEMIA; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; RECEPTORS, LDL;

EID: 0347287029     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201079     Document Type: Article

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