Familial Hypercholesterolemia in Greek children and their families: Genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum

Atherosclerosis

Volumn 237, Issue 2, 2014, Pages 798-804

  Mollaki, Vasiliki ^a,b   Progias, Pavlos ^a   Drogari, Euridiki ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b Choremio Research Laboratory Thivon and Levadias   (Greece)

Author keywords

Children; Familial Hypercholesterolemia (FH); Genotype to phenotype; Low Density Lipoprotein Receptor (LDLR); Mutations

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL;

ADOLESCENT; ARTICLE; CHILD; CHILDHOOD DISEASE; CONTROLLED STUDY; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; GREECE; HUMAN; INTRON; LIPID BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; NONSENSE MUTATION; POINT MUTATION; PREVALENCE; PROMOTER REGION; TRIACYLGLYCEROL BLOOD LEVEL;

EID: 84909953128     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2014.09.031     Document Type: Article

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