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
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
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
Morava E et al.
Journal of Inherited Metabolic Disease, 2016
[Mutational Analysis of Hemophilia B in Russia: Molecular-Genetic Study].
Surin VL et al.
Genetika, 2016
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
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