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Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B.
Simhadri, Vijaya L; Hamasaki-Katagiri, Nobuko; Lin, Brian C; Hunt, Ryan; Jha, Sujata; Tseng, Sandra C; Wu, Andrew; Bentley, Amber A; Zichel, Ran; Lu, Qi; Zhu, Lily; Freedberg, Darón I; Monroe, Dougald M; Sauna, Zuben E; Peters, Robert; Komar, Anton A; Kimchi-Sarfaty, Chava.
Afiliação
  • Simhadri VL; Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation and Research, Food and Drug Administration, Silver Spring, Maryland, USA.
  • Hamasaki-Katagiri N; Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation and Research, Food and Drug Administration, Silver Spring, Maryland, USA.
  • Lin BC; Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation and Research, Food and Drug Administration, Silver Spring, Maryland, USA.
  • Hunt R; Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation and Research, Food and Drug Administration, Silver Spring, Maryland, USA.
  • Jha S; Department of Biological, Geological & Environmental Sciences, Center for Gene Regulation in Health and Disease, Cleveland State University, Cleveland, Ohio, USA.
  • Tseng SC; Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation and Research, Food and Drug Administration, Silver Spring, Maryland, USA.
  • Wu A; Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation and Research, Food and Drug Administration, Silver Spring, Maryland, USA.
  • Bentley AA; Department of Biological, Geological & Environmental Sciences, Center for Gene Regulation in Health and Disease, Cleveland State University, Cleveland, Ohio, USA.
  • Zichel R; Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation and Research, Food and Drug Administration, Silver Spring, Maryland, USA.
  • Lu Q; Hematology Research, Cambridge, Massachusetts, USA.
  • Zhu L; Hematology Research, Cambridge, Massachusetts, USA.
  • Freedberg DI; Laboratory 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.
  • Monroe DM; Department of Hematology/Oncology, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
  • Sauna ZE; Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation and Research, Food and Drug Administration, Silver Spring, Maryland, USA.
  • Peters R; Hematology Research, Cambridge, Massachusetts, USA.
  • Komar AA; Department of Biological, Geological & Environmental Sciences, Center for Gene Regulation in Health and Disease, Cleveland State University, Cleveland, Ohio, USA.
  • Kimchi-Sarfaty C; Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation and Research, Food and Drug Administration, Silver Spring, Maryland, USA.
J Med Genet ; 54(5): 338-345, 2017 05.
Article em En | MEDLINE | ID: mdl-28007939
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator IX / Hemofilia B / Mutação Silenciosa Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator IX / Hemofilia B / Mutação Silenciosa Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos