Associated Papers
Identification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B.
Bach KQ et al.
Journal of Blood Medicine, 2025
First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B.
Harmatz P et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 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
A Machine Learning Framework Predicts the Clinical Severity of Hemophilia B Caused by Point-Mutations.
Lopes TJS et al.
Frontiers in Bioinformatics, 2022
36304295 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_5_-_Disambiguate.xlsx › Predictions
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
The CDC Hemophilia B mutation project mutation list: a new online resource.
Li T et al.
Molecular Genetics & Genomic Medicine, 2013
24498619 (PubMed )
Supplement: mgg30001-0238-SD1.xlsx › CHBMP_Mutation_List
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
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
Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients.
Erlandson A et al.
Genetic Testing, 2000
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