Associated Papers
Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients.
Shen MC et al.
Diagnostics (basel, Switzerland), 2022
Mutation of Factor IX Cys178 is intolerant and may cause severe hemophilia B.
Wang X et al.
Thrombosis Research, 2019
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
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
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
Select a paper to view details