Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation

Atherosclerosis

Volumn 236, Issue 1, 2014, Pages

  Mabuchi, Hiroshi ^a   Nohara, Atsushi ^a   Noguchi, Tohru ^a   Kobayashi, Junji ^a   Kawashiri, Masa aki ^a   Inoue, Takeshi ^a   Mori, Mika ^a   Tada, Hayato ^a   Nakanishi, Chiaki ^a   Yagi, Kunimasa ^a   Yamagishi, Masakazu ^a   Ueda, Kousei ^b   Takegoshi, Tadayoshi ^c   Miyamoto, Susumu ^d   Inazu, Akihiro ^a   Koizumi, Junji ^a  

^a KANAZAWA UNIVERSITY   (Japan)

^b Komatsu Municipal Hospital   (Japan)

^c Fukui Prefectural Hospital   (Japan)

^d Hokuriku Central Hospital   (Japan)

Author keywords

Heterozygous FH (Hetero FH); Homozygous familial hypercholesterolemia (Homo FH); LDL receptor; PCSK9

Indexed keywords

CHOLESTEROL; GENOMIC DNA; KEXIN; SUBTILISIN; LOW DENSITY LIPOPROTEIN RECEPTOR; PCSK9 PROTEIN, HUMAN; SERINE PROTEINASE; TRIACYLGLYCEROL;

ARTICLE; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GAIN OF FUNCTION MUTATION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; LEUKOCYTE; MALE; PRIORITY JOURNAL; ALLELE; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; BLOOD; COHORT ANALYSIS; DOMINANT GENE; GENETIC HETEROGENEITY; GENETICS; HOMOZYGOTE; HYPERLIPOPROTEINEMIA TYPE II; JAPAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PHYSIOLOGY; POINT MUTATION;

ALLELES; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CHOLESTEROL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENES, DOMINANT; GENETIC HETEROGENEITY; GENOTYPE; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; JAPAN; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POINT MUTATION; PROPROTEIN CONVERTASES; RECEPTORS, LDL; SERINE ENDOPEPTIDASES; TRIGLYCERIDES;

EID: 84905865817     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2014.06.005     Document Type: Article

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