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Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.
Fassad, Mahmoud R; Rumman, Nisreen; Junger, Katrin; Patel, Mitali P; Thompson, James; Goggin, Patricia; Ueffing, Marius; Beyer, Tina; Boldt, Karsten; Lucas, Jane S; Mitchison, Hannah M.
Affiliation
  • Fassad MR; Genetics and Genomic Medicine Research and Teaching Department, University College London, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom.
  • Rumman N; Department of Human Genetics, Medical Research Institute, Alexandria University, 22 El-Guish Road, El-Shatby, Alexandria 21526, Egypt.
  • Junger K; Department of Pediatrics, Faculty of Medicine, Makassed Hospital and Al-Quds University, East Jerusalem 91220, Palestine.
  • Patel MP; Section of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, Yale University School of Medicine, 300 Cedar St #441, New Haven, CT 06520, United States.
  • Thompson J; Institute for Ophthalmic Research, Eberhard Karl University of Tübingen, Elfreide-Alhorn-Strasse 5-7, Tübingen 72076, Germany.
  • Goggin P; Genetics and Genomic Medicine Research and Teaching Department, University College London, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom.
  • Ueffing M; MRC Prion Unit at UCL, Institute of Prion Diseases, University College London, 33 Cleveland Street, London W1W 7FF, United Kingdom.
  • Beyer T; Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, United Kingdom.
  • Boldt K; School of Clinical and Experimental Sciences, University of Southampton Faculty of Medicine, University Road, Southampton SO17 1BJ, United Kingdom.
  • Lucas JS; Biomedical Imaging Unit, University of Southampton Faculty of Medicine, University Road, Southampton SO17 1BJ, United Kingdom.
  • Mitchison HM; Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, United Kingdom.
Hum Mol Genet ; 32(21): 3090-3104, 2023 10 17.
Article in En | MEDLINE | ID: mdl-37555648
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cilia / Ciliopathies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2023 Type: Article Affiliation country: United kingdom
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cilia / Ciliopathies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2023 Type: Article Affiliation country: United kingdom