Associated Papers
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
The characteristics and spectrum of F9 mutations in Chinese sporadic haemophilia B pedigrees.
Lu Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation.
Pignani S et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity.
Branchini A et al.
Febs Letters, 2013
Analysis of F9 point mutations and their correlation to severity of haemophilia B disease.
Hamasaki-Katagiri N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.
Silva Pinto C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
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