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. |
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| 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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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.13742 |
