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Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B
  1. Vijaya L Simhadri1,
  2. Nobuko Hamasaki-Katagiri1,
  3. Brian C Lin1,
  4. Ryan Hunt1,
  5. Sujata Jha2,
  6. Sandra C Tseng1,
  7. Andrew Wu1,
  8. Amber A Bentley2,
  9. Ran Zichel1,
  10. Qi Lu3,
  11. Lily Zhu3,
  12. Darón I Freedberg4,
  13. Dougald M Monroe5,
  14. Zuben E Sauna1,
  15. Robert Peters3,
  16. Anton A Komar2,
  17. Chava Kimchi-Sarfaty1
  1. 1Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation and Research, Food and Drug Administration, Silver Spring, Maryland, USA
  2. 2Department of Biological, Geological & Environmental Sciences, Center for Gene Regulation in Health and Disease, Cleveland State University, Cleveland, Ohio, USA
  3. 3Hematology Research, Cambridge, Massachusetts, USA
  4. 4Laboratory of Bacterial Polysaccharides, Division of Bacterial Products and Allergenic Products, Office of Vaccines Research and Review, Center for Biologics Evaluation and Research, Food and Drug Administration, Silver Spring, Maryland, USA
  5. 5Department of Hematology/Oncology, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
  1. Correspondence to Dr Chava Kimchi-Sarfaty, Division of Plasma Protein Therapeutics, FDA|CBER|OTAT, Federal Research Center at White Oak, Building 52/72, Room 4118, 10903 New Hampshire Avenue, Silver Spring, MD 20993, USA; Chava.Kimchi-Sarfaty{at}fda.hhs.gov
  2. Dr Anton A Komar, Center for Gene Regulation in Health and Disease, Department of Biological, Geological & Environmental Sciences, Cleveland State University, Cleveland, OH 44115, USA; A.Komar{at}csuohio.edu
  3. Dr Zuben E Sauna, Division of Plasma Protein Therapeutics, FDA | CBER | OTAT, Federal Research Center at White Oak, Building 52/72, Room 4120, 10903 New Hampshire Avenue, Silver Spring, MD 20993, USA; Zuben.Sauna{at}fda.hhs.gov

Footnotes

  • VLS and NHK contributed equally.

  • Contributors VLS, NHK, ZES, RP, AAK and CK-S conceived and designed the study. QL, LZ, RP and DIF provided materials and contributed analytical tools. VLS, NHK, SJ and BCL performed most of the experiments. VLS, NHK, SJ, BCL, SCT, AW, AAB, RZ, QL, LZ, DIF, ZES, AAK and CK-S conducted analyses and interpreted results. ZES, VLS, NHK, BCL, AAK and CK-S drafted and prepared the manuscript. ZES, AAK, CK-S, RP, BCL, VLS, NHK and DIF edited and finalised the manuscript.

  • Funding American Heart Association (13GRNTI7070025), National Institutes of Health (1R15HL121779-01A1).

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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Footnotes

  • VLS and NHK contributed equally.

  • Contributors VLS, NHK, ZES, RP, AAK and CK-S conceived and designed the study. QL, LZ, RP and DIF provided materials and contributed analytical tools. VLS, NHK, SJ and BCL performed most of the experiments. VLS, NHK, SJ, BCL, SCT, AW, AAB, RZ, QL, LZ, DIF, ZES, AAK and CK-S conducted analyses and interpreted results. ZES, VLS, NHK, BCL, AAK and CK-S drafted and prepared the manuscript. ZES, AAK, CK-S, RP, BCL, VLS, NHK and DIF edited and finalised the manuscript.

  • Funding American Heart Association (13GRNTI7070025), National Institutes of Health (1R15HL121779-01A1).

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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