首页> American journal of human genetics> Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.

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第一作者： Heike,Olbrich

第一单位： Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany. Electronic address: heike.olbrich@ukmuenster.de.

作者： Heike,Olbrich ^[1] ; Carolin,Cremers ^[2] ; Niki T,Loges ^[2] ; Claudius,Werner ^[2] ; Kim G,Nielsen ^[3] ; June K,Marthin ^[3] ; Maria,Philipsen ^[3] ; Julia,Wallmeier ^[2] ; Petra,Pennekamp ^[2] ; Tabea,Menchen ^[2] ; Christine,Edelbusch ^[2] ; Gerard W,Dougherty ^[2] ; Oliver,Schwartz ^[2] ; Holger,Thiele ^[4] ; Janine,Altmüller ^[5] ; Frank,Rommelmann ^[6] ; Heymut,Omran ^[7]

作者单位： Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany. Electronic address: heike.olbrich@ukmuenster.de. ^[1] Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany. ^[2] Danish PCD Centre, Pediatric Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark. ^[3] Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany. ^[4] Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany. ^[5] Pulmonary Specialist Practice, 40217 Duesseldorf, Germany. ^[6] Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany. Electronic address: heymut.omran@ukmuenster.de. ^[7]