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A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects.

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Title: A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects.
Authors: Cho EH; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea., Huh HJ; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea., Jeong I; Department of Biomedical Sciences, College of Medicine, Korea University, Ansan, South Korea., Lee NY; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea., Koh WJ; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea., Park HC; Department of Biomedical Sciences, College of Medicine, Korea University, Ansan, South Korea., Ki CS; GC Genome, Yongin, South Korea.
Source: Clinical genetics [Clin Genet] 2020 Jul; Vol. 98 (1), pp. 64-68. Date of Electronic Publication: 2020 Mar 25.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects.
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  Data: <searchLink fieldCode="AU" term="%22Cho+EH%22">Cho EH</searchLink>; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Huh+HJ%22">Huh HJ</searchLink>; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Jeong+I%22">Jeong I</searchLink>; Department of Biomedical Sciences, College of Medicine, Korea University, Ansan, South Korea.<br /><searchLink fieldCode="AU" term="%22Lee+NY%22">Lee NY</searchLink>; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Koh+WJ%22">Koh WJ</searchLink>; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Park+HC%22">Park HC</searchLink>; Department of Biomedical Sciences, College of Medicine, Korea University, Ansan, South Korea.<br /><searchLink fieldCode="AU" term="%22Ki+CS%22">Ki CS</searchLink>; GC Genome, Yongin, South Korea.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2020 Jul; Vol. 98 (1), pp. 64-68. <i>Date of Electronic Publication: </i>2020 Mar 25.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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              Text: 2020 Jul
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