Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: Importance of genetic testing in the entire family

Atherosclerosis

Volumn 218, Issue 2, 2011, Pages 423-430

  Garcia Garcia, Ana Barbara ^a,b   Ivorra, Carmen ^b,c,f   Martinez Hervas, Sergio ^a,b,d   Blesa, Sebastian ^a,b   Fuentes, M José ^b   Puig, Oscar ^e,g   Martín de Llano, Jose Javier ^b,f   Carmena, Rafael ^a,d   Real, Jose T ^a,d   Chaves, Felipe Javier ^a,b  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

^b UNIVERSITY OF VALENCIA   (Spain)

^c Instituto de Salud Carlos III   (Spain)

^d HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^e CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

^f HOSPITAL GENERAL UNIVERSITARIO DE VALENCIA   (Spain)

^g MERCK RESEARCH LABORATORIES   (United States)

Author keywords

Apolipoprotein B 100; Autosomal dominant hypercholesterolemia; Familial hypercholesterolemia; Familial ligand defective; Genetic diagnosis; Mutation screening

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADOLESCENT; ADULT; ARTICLE; CELL CULTURE; CHILD; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC TRANSFECTION; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SPAIN;

ADOLESCENT; ADULT; AGED; ANIMALS; APOLIPOPROTEIN B-100; APOLIPOPROTEINS B; CERCOPITHECUS AETHIOPS; CHILD; CHOLESTEROL, LDL; COS CELLS; FAMILY HEALTH; FEMALE; GENETIC TESTING; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTAGENESIS; MUTATION; PEDIGREE; PHENOTYPE; PROPROTEIN CONVERTASES; SEQUENCE ANALYSIS, DNA; SERINE ENDOPEPTIDASES; SPAIN;

EID: 84860403257     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2011.07.106     Document Type: Article

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