Identification of rare genetic variants in novel loci associated with Paget's disease of bone

Human Genetics

Volumn 133, Issue 6, 2014, Pages 755-768

  Beauregard, Mariejka ^a,b   Gagnon, Edith ^a   Guay Bélanger, Sabrina ^a,b   Morissette, Jean ^a   Brown, Jacques P ^a,b   Michou, Laëtitia ^a,b  

^a LAVAL UNIVERSITY   (Canada)

^b UNIVERSITÉ LAVAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COLLAGEN; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR KAPPA B;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CANADA; CD276 GENE; COMPUTER MODEL; CONTROLLED STUDY; CTHRC1 GENE; EXON; FAMILY; FEMALE; GENE; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOCLASTOGENESIS; PAGET BONE DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TM7SF4 GENE; UNTRANSLATED REGION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AGED; CANADA; COMPUTER SIMULATION; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FRANCE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTRONS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MODELS, GENETIC; MUTATION; OSTEITIS DEFORMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC;

EID: 84901201705     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1409-x     Document Type: Article

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