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Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
Olbrich, Heike; Cremers, Carolin; Loges, Niki T; Werner, Claudius; Nielsen, Kim G; Marthin, June K; Philipsen, Maria; Wallmeier, Julia; Pennekamp, Petra; Menchen, Tabea; Edelbusch, Christine; Dougherty, Gerard W; Schwartz, Oliver; Thiele, Holger; Altmüller, Janine; Rommelmann, Frank; Omran, Heymut.
Afiliación
  • Olbrich H; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany. Electronic address: heike.olbrich@ukmuenster.de.
  • Cremers C; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Loges NT; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Werner C; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Nielsen KG; Danish PCD Centre, Pediatric Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark.
  • Marthin JK; Danish PCD Centre, Pediatric Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark.
  • Philipsen M; Danish PCD Centre, Pediatric Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark.
  • Wallmeier J; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Pennekamp P; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Menchen T; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Edelbusch C; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Dougherty GW; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Schwartz O; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Thiele H; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
  • Altmüller J; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany.
  • Rommelmann F; Pulmonary Specialist Practice, 40217 Duesseldorf, Germany.
  • Omran H; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany. Electronic address: heymut.omran@ukmuenster.de.
Am J Hum Genet ; 97(4): 546-54, 2015 Oct 01.
Article en En | MEDLINE | ID: mdl-26387594
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de Kartagener / Dineínas / Proteínas del Citoesqueleto / Complejos Multiproteicos / Nexinas de Proteasas / Mutación / Proteínas de Neoplasias Tipo de estudio: Prognostic_studies Límite: Adult / Animals / Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de Kartagener / Dineínas / Proteínas del Citoesqueleto / Complejos Multiproteicos / Nexinas de Proteasas / Mutación / Proteínas de Neoplasias Tipo de estudio: Prognostic_studies Límite: Adult / Animals / Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2015 Tipo del documento: Article