Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants

doi:10.1002/mgg3.840

Title: Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants

Authors:

Katneni, Upendra K. ^[1]; Liss, Aaron ^[1]; Holcomb, David ^[1]; Katagiri, Nobuko H. ^[1]; Hunt, Ryan ^[1]; Bar, Haim ^[2]; Ismail, Amra ^[3]; Komar, Anton A. ^[3];

^[1]

Hemostasis Branch, Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation &, Research US FDA Silver Spring Maryland
Department of Statistics University of Connecticut Storrs Connecticut
Department of Biological, Geological and Environmental Sciences, Center for Gene Regulation in Health and Disease Cleveland State University Cleveland Ohio

Publication Date:: 2019-06-17

Sponsoring Org.:: USDOE

OSTI Identifier:: 1559339

Alternate Identifier(s):: OSTI ID: 1559340

Resource Type:: Published Article

Journal Name:: Molecular Genetics & Genomic Medicine

Additional Journal Information:: Journal Name: Molecular Genetics & Genomic Medicine Journal Volume: 7 Journal Issue: 8; Journal ID: ISSN 2324-9269

Publisher:: Wiley Blackwell (John Wiley & Sons)

Country of Publication:: United States

Language:: English

Citation Formats


                    Katneni, Upendra K., Liss, Aaron, Holcomb, David, Katagiri, Nobuko H., Hunt, Ryan, Bar, Haim, Ismail, Amra, Komar, Anton A., and Kimchi‐Sarfaty, Chava. Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.  United States: N. p., 2019. 
        Web.  doi:10.1002/mgg3.840.

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                    Katneni, Upendra K., Liss, Aaron, Holcomb, David, Katagiri, Nobuko H., Hunt, Ryan, Bar, Haim, Ismail, Amra, Komar, Anton A., & Kimchi‐Sarfaty, Chava. Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.  United States.  doi:10.1002/mgg3.840.

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                    Katneni, Upendra K., Liss, Aaron, Holcomb, David, Katagiri, Nobuko H., Hunt, Ryan, Bar, Haim, Ismail, Amra, Komar, Anton A., and Kimchi‐Sarfaty, Chava. Mon .  
        "Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants".  United States.  doi:10.1002/mgg3.840.

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@article{osti_1559339,

  title        = {Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants},

  author       = {Katneni, Upendra K. and Liss, Aaron and Holcomb, David and Katagiri, Nobuko H. and Hunt, Ryan and Bar, Haim and Ismail, Amra and Komar, Anton A. and Kimchi‐Sarfaty, Chava},

  abstractNote = {},

  doi          = {10.1002/mgg3.840},

  journal      = {Molecular Genetics & Genomic Medicine},

  number       = 8,

  volume       = 7,

  place        = {United States},

  year         = {2019},

  month        = {6}

}

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DOI: 10.1002/mgg3.840

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Works referenced in this record:

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Title: Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants

Citation Formats

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Haemophilia A and haemophilia B: molecular insights journal, April 2002

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Spliceosomal UsnRNP biogenesis, structure and function
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Nomenclature of genetic variants in hemostasis: Scientific and Standardisation Committee communication
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A Gene-Specific Method for Predicting Hemophilia-Causing Point Mutations
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Quantitative evaluation of all hexamers as exonic splicing elements
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An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects
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Genome-wide discovery of human splicing branchpoints
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Human Splicing Finder: an online bioinformatics tool to predict splicing signals
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Prediction of single‐nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6
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Exposing synonymous mutations
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