Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B

Thrombosis and Haemostasis

Volumn 109, Issue 1, 2013, Pages 24-33

  Radic, Claudia Pamela ^a,b   Rossetti, Liliana Carmen ^a,b   Abelleyro, Miguel Martín ^a,b   Candela, Miguel ^b   Bianco, Raúl Pérez ^b   Pinto, Miguel de Tezanos ^b   Larripa, Irene Beatriz ^a,b   Goodeve, Anne ^c   De Brasi, Carlos Daniel ^a,b  

^a ACADEMIA NACIONAL DE MEDICINA   (Argentina)

^b INST DE INVEST HEMATOLOGICAS   (Argentina)

^c SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

CSGE; F9; FIX Inhibitors; Haemophilia B; Mutation

Indexed keywords

BLOOD CLOTTING FACTOR 9;

ARTICLE; BIOINFORMATICS; CASE CONTROL STUDY; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; EXON; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HEMOPHILIA B; HUMAN; MALE; MISSENSE MUTATION; MUTATION RATE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL;

ARGENTINA; AUTOANTIBODIES; BIOLOGICAL MARKERS; CASE-CONTROL STUDIES; CODON, NONSENSE; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; FACTOR IX; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HEMOPHILIA B; HEMOSTASIS; HUMANS; INDEL MUTATION; MALE; MUTATION; MUTATION, MISSENSE; ODDS RATIO; PEDIGREE; PHENOTYPE; POINT MUTATION; PREVALENCE; PROTEIN CONFORMATION; RISK FACTORS; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 84872241332     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH12-05-0302     Document Type: Article

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