Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia

Atherosclerosis

Volumn 253, Issue , 2016, Pages 88-93

  Grenkowitz, Thomas ^a   Kassner, Ursula ^a   Wühle Demuth, Marion ^a   Salewsky, Bastian ^a   Rosada, Adrian ^a   Zemojtel, Tomasz ^a,b   Hopfenmüller, Werner ^a   Isermann, Berend ^c   Borucki, Katrin ^c   Heigl, Franz ^d   Laufs, Ulrich ^e   Wagner, Stephan ^f   Kleber, Marcus E ^g,h   Binner, Priska ⁱ   März, Winfried ^g,i,j   Steinhagen Thiessen, Elisabeth ^a   Demuth, Ilja ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b INSTITUTE OF BIOORGANIC CHEMISTRY   (Poland)

^c OTTO VON GUERICKE UNIVERSITY   (Germany)

^d Dres Heigl Hettich and Partner   (Germany)

^e SAARLAND UNIVERSITY   (Germany)

^f Georg Haas Dialysis Centre   (Germany)

^g UNIVERSITY OF HEIDELBERG   (Germany)

^h Heidelberg University ^*  (Germany)

ⁱ SYNLAB ACADEMY   (Germany)

^j MEDICAL UNIVERSITY OF GRAZ   (Austria)

more..

Author keywords

Familial hypercholesterolemia; LDL; LDL C; LDL Cholesterol; Low density lipoprotein; Mutation spectrum

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; PCSK9 PROTEIN, HUMAN; PROPROTEIN CONVERTASE 9; SERINE PROTEINASE;

ARTICLE; FAMILIAL HYPERCHOLESTEROLEMIA; FRAMESHIFT MUTATION; GENE; GENE LOCATION; GENE MUTATION; GENETIC VARIABILITY; GERMAN (CITIZEN); GERMANY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; PATHOGENESIS; PCSK9 GENE; PRIORITY JOURNAL; ADULT; ALLELE; BLOOD; DNA MUTATIONAL ANALYSIS; EXON; FEMALE; GENETIC ASSOCIATION STUDY; GENETIC VARIATION; GENETICS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; RECEIVER OPERATING CHARACTERISTIC;

ADULT; ALLELES; APOLIPOPROTEINS B; CHOLESTEROL, LDL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GERMANY; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PROPROTEIN CONVERTASE 9; PROPROTEIN CONVERTASES; RECEPTORS, LDL; ROC CURVE; SERINE ENDOPEPTIDASES;

EID: 84984819463     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2016.08.037     Document Type: Article

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