Characterization of the First PCSK9 Gain of Function Homozygote

Journal of the American College of Cardiology

Volumn 66, Issue 19, 2015, Pages 2152-2154

  Alves, Ana Catarina ^b   Etxebarria, Aitor ^b   Medeiros, Ana Margarida ^b   Benito Vicente, Asier ^b   Thedrez, Aurélie ^b   Passard, Maxime ^b   Croyal, Mikaël ^b   Martin, Cesar ^b   Lambert, Gilles ^b   Bourbon, Mafalda ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B100; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR; DNA; PCSK9 PROTEIN, HUMAN; SERINE PROTEINASE;

APOB GENE; GAIN OF FUNCTION MUTATION; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC VARIABILITY; HOMOZYGOTE; HUMAN; HYPERCHOLESTEROLEMIA; LDL GENE; LDLR GENE; LETTER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PCSK9 GENE; PRIORITY JOURNAL; FAMILIAL HYPERCHOLESTEROLEMIA; GENETICS; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

DNA; DNA MUTATIONAL ANALYSIS; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MUTATION; PEDIGREE; PROPROTEIN CONVERTASES; SERINE ENDOPEPTIDASES;

EID: 84958093453     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2015.08.871     Document Type: Letter

References (4)

1. A.M. Medeiros, A.C. Alves, and M. Bourbon Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement Genet Med 2015 May 28 [E-pub ahead of print]
2. A. Etxebarria, A. Benito-Vicente, A.C. Alves, H. Ostolaza, M. Bourbon, and C. Martin Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment PLoS One 9 2014 e112677
3. G. Lambert, F. Petrides, M. Chatelais, and et al. Elevated plasma PCSK9 level is equally detrimental for patients with nonfamilial hypercholesterolemia and heterozygous familial hypercholesterolemia, irrespective of low-density lipoprotein receptor defects J Am Coll Cardiol 63 2014 2365 2373
4. A.M. Medeiros, A.C. Alves, P. Aguiar, M. Bourbon for the Pediatric Investigators of the Portuguese Familial Hypercholesterolemia Study Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia J Lipid Res 55 2014 947 955