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Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia.
Bustamante-Marin, Ximena M; Shapiro, Adam; Sears, Patrick R; Charng, Wu-Lin; Conrad, Donald F; Leigh, Margaret W; Knowles, Michael R; Ostrowski, Lawrence E; Zariwala, Maimoona A.
Afiliación
  • Bustamante-Marin XM; Department of Medicine, Marsico Lung Institute, University of North Carolina, Chapel Hill, NC, 27599, USA.
  • Shapiro A; Department of Pediatrics, Division of Pediatric Respiratory Medicine, McGill University Health Centre Research Institute, Montreal, QC, Canada.
  • Sears PR; Department of Medicine, Marsico Lung Institute, University of North Carolina, Chapel Hill, NC, 27599, USA.
  • Charng WL; Department of Genetics and Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.
  • Conrad DF; Department of Genetics and Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.
  • Leigh MW; Division of Genetics, Oregon National Primate Research Center, Beaverton, OR, 97006, USA.
  • Knowles MR; Department of Pediatrics, Marsico Lung Institute, University of North Carolina, Chapel Hill, NC, 27599, USA.
  • Ostrowski LE; Department of Medicine, Marsico Lung Institute, University of North Carolina, Chapel Hill, NC, 27599, USA.
  • Zariwala MA; Department of Medicine, Marsico Lung Institute, University of North Carolina, Chapel Hill, NC, 27599, USA. ostro@med.unc.edu.
J Hum Genet ; 65(2): 175-180, 2020 Jan.
Article en En | MEDLINE | ID: mdl-31636325
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Proteínas / Trastornos de la Motilidad Ciliar Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 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: Variación Genética / Proteínas / Trastornos de la Motilidad Ciliar Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos