Associated Papers
Origin of pathogenic variant and mosaicism in families with a sporadic case of haemophilia B.
Mårtensson A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2024
Clinical analysis and quality of life survey of hemophilia B patients in the central and western regions of China.
Wang W et al.
Frontiers in Pediatrics, 2024
Factor IX antibodies and tolerance in hemophilia B in the Nordic countries - The impact of F9 variants and complications.
Kihlberg K et al.
Thrombosis Research, 2022
The Molecular Basis of FIX Deficiency in Hemophilia B.
Shen G et al.
International Journal of Molecular Sciences, 2022
Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.
Agrawal N et al.
International Journal of Laboratory Hematology, 2022
Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.
Huang L et al.
Molecular Genetics & Genomic Medicine, 2020
Molecular characterization of hemophilia B patients in Colombia.
Parrado Jara YA et al.
Molecular Genetics & Genomic Medicine, 2020
Molecular characterization of haemophilia B patients in southern Brazil.
Meireles MR et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017
Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations.
Branchini A et al.
Blood, 2017
Usual and unusual mutations in a cohort of Belgian patients with hemophilia B.
Lannoy N et al.
Thrombosis Research, 2017
Hemophilia B: molecular pathogenesis and mutation analysis.
Goodeve AC
Journal of Thrombosis and Haemostasis : Jth, 2015
Risk factors associated with inhibitor development in Chinese patients with haemophilia B.
Zhou J et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015
Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.
Guo ZP et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014
Mutation analysis of a cohort of US patients with hemophilia B.
Li T et al.
American Journal of Hematology, 2014
Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population.
Colombo FP et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013
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.
Radic CP et al.
Thrombosis and Haemostasis, 2013
Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations.
Pinotti M et al.
Human Mutation, 2012
Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online.
Mahajan A et al.
Human Mutation, 2007