Associated Papers
Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.
Huang L et al.
Molecular Genetics & Genomic Medicine, 2020
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_MOESM2_ESM.xlsx › Variants_used
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 characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
Okano Y et al.
Journal of Human Genetics, 2011
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