Analysis of the N-glycans of recombinant human Factor IX purified from transgenic pig milk
PMID: 18456721
Gene: F9
HGNC: 3551
36 Matching Annotations
- Oct 2026
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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Table I.
No evidence of NM_000133.4:c.84T>G (p.Cys28Trp) in this paper.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Clinical Problem Solving and Using New Paths in the Laboratory: Learning from Case Studies
PMID: 32820490
Gene: F9
HGNC: 3551
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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The CDC Hemophilia B mutation project mutation list: a new online resource
PMID: 24498619
Gene: F9
HGNC: 3551
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watermark.silverchair.com watermark.silverchair.com
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Blood Clotting Factor IX Niigata: Substitution of Alanine-390 byValine in the Catalytic Domain1
PMID: 3243764
Gene: F9
HGNC: 3551
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Defective propeptide processing and abnormal activation underlie the molecular pathology of factor IX Troed-y-Rhiw
PMID: 2788012
Gene: F9
HGNC: 3551
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Table 2
No evidence of NM_000133.4:c.84T>G (p.Cys28Trp) in this paper.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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In silico analysis of missense mutations in exons 1–5 of the F9 gene that cause hemophilia B
PMID: 31253089
Gene: F9
HGNC: 3551
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Table I
No evidence of NM_000133.4:c.84T>G (p.Cys28Trp) in this paper.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Regulation of a strong F9 cryptic 5′ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides
PMID: 26063760
Gene: F9
HGNC: 3551
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Click here for additional data file.(2
NM_000133.4:c.128G>T (p.Arg43Leu) is mentioned in this paper, however, there is no case level data associated with the mentioned variant.
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Click here for additional data file.(
NM_000133.4:c.137G>A (p.Arg46Lys) is mentioned in this paper, however, there is no case level data associated with the mentioned variant.
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Click here for additional data file.(2
NM_000133.4:c.128G>A (p.Arg43Gln) is mentioned in the paper, however, there is no case level data associated with the mentioned variant.
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Click here for additional data file.
NM_000133.4:c.127C>T (p.Arg43Trp) is not mentioned in this paper.
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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Table 1.
No evidence of NM_000133.4:c.84T>G (p.Cys28Trp) in this paper.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Extended half‐life rFIX in major surgery—How to improve clinical practice: An intraindividual comparison
PMID: 32185052
Gene: F9
HGNC: 3551
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
PMID: 31257730
Gene: F9
HGNC: 3551
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Characterization of missense mutations in the signal peptide and propeptide of FIX in hemophilia B by a cell-based assay
PMID: 32766856
Gene: F9
HGNC: 3551
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor
PMID: 3461460
Gene: F9
HGNC: 3551
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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Table 1.
No evidence of NM_000133.4:c.84T>G (p.Cys28Trp) in this paper.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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The Molecular Basis of FIX Deficiency in Hemophilia B
PMID: 35269902
Gene: F9
HGNC: 3551
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link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
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mutation
No mention of NM_000133.4:c.128G>A (p.Arg43Gln) in this paper.
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mutation
No Case Level Evidence for NM_000133.4:c.128G>T (p.Arg43Leu)
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illiad.lib.unc.edu illiad.lib.unc.edu
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The molecular basis of hemophilia BEdyta Odnoczko , Daria Malarczyk , Agata Adamiec
PMID: No PMID (chrome-extension://bjfhmglciegochdpefhhlphglcehbmek/pdfjs/web/viewer.html?file=https%3A%2F%2Filliad.lib.unc.edu%2FNOH%2Filliad.dll%3FAction%3D10%26Form%3D75%26Value%3D3078221)
Gene: F9
HGNC: 3551
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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.A37D
Only mention of NM_000133.4:c.110C>A (p.Ala37Asp) in this publication.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A Mutation in the Propeptide of Factor IX Leads to WarfarinSensitivity by a Novel Mechanism
PMID: 8833911
Gene: F9
HGNC: 3551
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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mutations
The only mention of NM_000133.4:c.135G>T (p.Lys45Asn) in this publication was in reference to other publications that have case level data on this specific variant.
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illiad.lib.unc.edu illiad.lib.unc.edu
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, similarly to other HB-related changes(p.Cys28Arg/Gly/Tyr)
No case level data for NM_000133.4:c.82T>C (p.Cys28Arg) in this paper.
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Abstract
No case level data for NM_000133.4:c.83G>A (p.Cys28Tyr) in this paper.
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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Table 1.
No evidence of NM_000133.4:c.84T>G (p.Cys28Trp) in this paper.
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illiad.lib.unc.edu illiad.lib.unc.edu
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variants
No mention of NM_000133.4:c.138G>T (p.Arg46Ser) in this publication.
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pdf.sciencedirectassets.com pdf.sciencedirectassets.com
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Defective Propeptide Processing of BloodClotting Factor IX Caused by Mutation ofArginine to Glutamine at Position -
PMID: 3009023
Gene: F9
HGNC: 3551
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pdf.sciencedirectassets.com pdf.sciencedirectassets.com
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c.138GNT
A case of NM_000133.4:c.138G>T (p.Arg46Ser) is mentioned in this paper, but previously reported, and no case level evidence is given in this publication.
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illiad.lib.unc.edu illiad.lib.unc.edu
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.A37D
Only mention of NM_000133.4:c.110C>A (p.Ala37Asp) in this publication.
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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Double mutations causing haemophilia B: a double whammy!
PMID: 19236374
Gene: F9
HGNC: 3551
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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mutation
No evidence of NM_000133.4:c.128G>A (p.Arg43Gln) in this paper.
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