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Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia.
Bustamante-Marin, Ximena M; Horani, Amjad; Stoyanova, Mihaela; Charng, Wu-Lin; Bottier, Mathieu; Sears, Patrick R; Yin, Wei-Ning; Daniels, Leigh Anne; Bowen, Hailey; Conrad, Donald F; Knowles, Michael R; Ostrowski, Lawrence E; Zariwala, Maimoona A; Dutcher, Susan K.
Afiliación
  • Bustamante-Marin XM; Department of Medicine, Marsico Lung Institute, University of North Carolina, Chapel Hill, North Carolina, United States of America.
  • Horani A; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, United States of America.
  • Stoyanova M; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, United States of America.
  • Charng WL; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, United States of America.
  • Bottier M; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, United States of America.
  • Sears PR; Department of Mechanical Engineering, Washington University, St. Louis, Missouri, United States of America.
  • Yin WN; Department of Medicine, Marsico Lung Institute, University of North Carolina, Chapel Hill, North Carolina, United States of America.
  • Daniels LA; Department of Medicine, Marsico Lung Institute, University of North Carolina, Chapel Hill, North Carolina, United States of America.
  • Bowen H; Department of Medicine, Marsico Lung Institute, University of North Carolina, Chapel Hill, North Carolina, United States of America.
  • Conrad DF; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, United States of America.
  • Knowles MR; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, United States of America.
  • Ostrowski LE; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, Oregon, United States of America.
  • Zariwala MA; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, United States of America.
  • Dutcher SK; Department of Medicine, Marsico Lung Institute, University of North Carolina, Chapel Hill, North Carolina, United States of America.
PLoS Genet ; 16(8): e1008691, 2020 08.
Article en En | MEDLINE | ID: mdl-32764743
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas / Trastornos de la Motilidad Ciliar / Dineínas / Codón sin Sentido / Axonema Tipo de estudio: Clinical_trials / Etiology_studies / Prognostic_studies Límite: Adult / Animals / Humans / Male Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas / Trastornos de la Motilidad Ciliar / Dineínas / Codón sin Sentido / Axonema Tipo de estudio: Clinical_trials / Etiology_studies / Prognostic_studies Límite: Adult / Animals / Humans / Male Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos