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Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
Sharma, Neeraj; Evans, Taylor A; Pellicore, Matthew J; Davis, Emily; Aksit, Melis A; McCague, Allison F; Joynt, Anya T; Lu, Zhongzhu; Han, Sangwoo T; Anzmann, Arianna F; Lam, Anh-Thu N; Thaxton, Abigail; West, Natalie; Merlo, Christian; Gottschalk, Laura B; Raraigh, Karen S; Sosnay, Patrick R; Cotton, Calvin U; Cutting, Garry R.
Afiliación
  • Sharma N; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Evans TA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Pellicore MJ; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Davis E; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Aksit MA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • McCague AF; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Joynt AT; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Lu Z; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Han ST; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Anzmann AF; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Lam AN; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Thaxton A; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, Maryland, United States of America.
  • West N; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, Maryland, United States of America.
  • Merlo C; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, Maryland, United States of America.
  • Gottschalk LB; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Raraigh KS; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
  • Sosnay PR; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins Hospital, Baltimore, Maryland, United States of America.
  • Cotton CU; Departments of Pediatrics, Physiology and Biophysics, Case Western Reserve University, Cleveland, Ohio, United States of America.
  • Cutting GR; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
PLoS Genet ; 14(11): e1007723, 2018 11.
Article en En | MEDLINE | ID: mdl-30444886
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación del Sistema de Lectura / Heterogeneidad Genética / Codón sin Sentido / Regulador de Conductancia de Transmembrana de Fibrosis Quística / Fibrosis Quística Límite: Animals / Humans Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación del Sistema de Lectura / Heterogeneidad Genética / Codón sin Sentido / Regulador de Conductancia de Transmembrana de Fibrosis Quística / Fibrosis Quística Límite: Animals / Humans Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos