Associated Papers
Humanization and functional characterization of enhanced coagulation factor IX variants identified through ancestral sequence reconstruction.
Coyle CW et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Compensatory epistasis explored by molecular dynamics simulations.
Serrano C et al.
Human Genetics, 2021
Molecular analysis in 12 factor XI deficiency patients from China: Identification of three novel splicing mutations.
Zhang D et al.
Thrombosis Research, 2020
Molecular characterization of hemophilia B patients in Colombia.
Parrado Jara YA et al.
Molecular Genetics & Genomic Medicine, 2020
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.
Katneni UK et al.
Molecular Genetics & Genomic Medicine, 2019
31257730 (PubMed )
Supplement: MGG3-7-e840-s002.xls › F9_Splicing_Data
Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.
Marín Ò et al.
Scientific Reports, 2019
31267011 (PubMed )
Supplement: 41598_2019_45916_MOESM3_ESM.xlsx › Sheet1
Hemophilia B: molecular pathogenesis and mutation analysis.
Goodeve AC
Journal of Thrombosis and Haemostasis : Jth, 2015
25851415 (PubMed )
Supplement: JTH-13-1184-s001.docx
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC
Molecular characterization of FXI deficiency.
Berber E
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2011
CBR1 and CBR3 pharmacogenetics and their influence on doxorubicin disposition in Asian breast cancer patients.
Lal S et al.
Cancer Science, 2008
Characterization of seven novel mutations causing factor XI deficiency.
Zucker M et al.
Haematologica, 2007
Structural interpretation of 42 mutations causing factor XI deficiency using homology modeling.
O'Connell NM et al.
Journal of Thrombosis and Haemostasis : Jth, 2005
Identification of a novel mutation in a non-Jewish factor XI deficient kindred.
Alhaq A et al.
British Journal of Haematology, 1999
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