Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece

European Journal of Internal Medicine

Volumn 22, Issue 5, 2011, Pages

  Diakou, Maria ^a,b   Miltiadous, George ^a,b   Xenophontos, Stavroulla L ^b   Manoli, Panayiotis ^b   Cariolou, Marios A ^b   Elisaf, Moses ^a  

^a UNIVERSITY OF IOANNINA   (Greece)

^b CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

Apolipoprotein B; Familial hypercholesterolaemia; Low density lipoprotein receptor gene; North western Greece; PCSK9

Indexed keywords

APOLIPOPROTEIN B; AUTOSOMAL RECESSIVE HYPERCHOLESTEROLEMIA PROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR; PROTEIN; SUBTILISIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; CHILD; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE DELETION; GENE EXPRESSION REGULATION; GENE MUTATION; GENE SEQUENCE; GREECE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; CHILD; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GREECE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; PREVALENCE; PROGNOSIS; RECEPTORS, LDL; YOUNG ADULT;

EID: 80052971122     PISSN: 09536205     EISSN: 18790828     Source Type: Journal    
DOI: 10.1016/j.ejim.2011.01.003     Document Type: Article

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