Whole-exome sequencing to identify genetic risk variants underlying inhibitor development in severe hemophilia A patients

Blood

Volumn 127, Issue 23, 2016, Pages 2924-2933

  Gorski, Marcin M ^a   Blighe, Kevin ^a   Lotta, Luca A ^a   Pappalardo, Emanuela ^a   Garagiola, Isabella ^a   Mancini, Ilaria ^a   Mancuso, Maria Elisa ^a   Fasulo, Maria Rosaria ^a   Santagostino, Elena ^a   Peyvandi, Flora ^a  

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALLOANTIBODY; APOLIPOPROTEIN B MESSENGER RNA EDITING ENZYME CATALYTIC POLYPEPTIDE 1; BLOOD CLOTTING FACTOR 8 ANTIBODY; CD161 ANTIGEN; COLLAGEN TYPE 11; ISOLEUCINE; LANGERIN; TOLL LIKE RECEPTOR 3; VALINE; BLOOD CLOTTING INHIBITOR; NEUTRALIZING ANTIBODY;

ALG10B GENE; AMINO ACID SUBSTITUTION; ANKRD62 GENE; ARTICLE; BLACE GENE; CHSY3 GENE; CLCA1 GENE; CLINICAL ARTICLE; CONTROLLED STUDY; CRYGB GENE; DCLRE1C GENE; DISEASE SEVERITY; DNHD1 GENE; EXOME; FAM184B GENE; FCGBP GENE; FNDC7 GENE; FOXJ3 GENE; FRAMESHIFT MUTATION; GENE; GENE IDENTIFICATION; GENE REPLICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC BACKGROUND; GENETIC IDENTIFICATION; GENETIC MODEL; GENETIC RISK; GENETIC VARIABILITY; GENOME ANALYSIS; GTSE1 GENE; HEMOPHILIA A; HHLA2 GENE; HOMOZYGOSITY; HUMAN; IGHG1 GENE; IGHG3 GENE; INDEL MUTATION; KIF4B GENE; LCT GENE; MAP1LC3B2 GENE; MISSENSE MUTATION; OPEN READING FRAME; OR10G3 GENE; OR8K1 GENE; OR8K3 GENE; PLA2R1 GENE; PLEKHA1 GENE; PRIORITY JOURNAL; PRSS48 GENE; PSMD9 GENE; RREB1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SLC14A2 GENE; SLCO1B7 GENE; START CODON; STON2 GENE; TRIM42 GENE; TTLL3 GENE; VDJ RECOMBINATION; WHOLE EXOME SEQUENCING; BIOSYNTHESIS; CASE CONTROL STUDY; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HIGH THROUGHPUT SEQUENCING; IMMUNOLOGY; MUTATION; PROCEDURES; RISK FACTOR; SEVERITY OF ILLNESS INDEX;

ANTIBODIES, NEUTRALIZING; BLOOD COAGULATION FACTOR INHIBITORS; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HEMOPHILIA A; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SEVERITY OF ILLNESS INDEX;

EID: 84978221632     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2015-12-685735     Document Type: Article

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