Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
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| Title: | Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome. |
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| Authors: | Halperin D; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Drabkin M; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Wormser O; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Yogev Y; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Dolgin V; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Shorer Z; Pediatric Neurology Unit, Division of Pediatrics, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Gradstein L; Department of Ophthalmology, Soroka University Medical Center and Clalit Health Services, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Shelef I; Faculty of Health Sciences, Department of Imaging, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Flusser H; Zusman Child Development Center, Division of Pediatrics, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Birk OS; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel.; Genetics Institute, Soroka University Medical Center, Beer-Sheva, Israel. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jun; Vol. 182 (6), pp. 1506-1512. Date of Electronic Publication: 2020 Mar 31. |
| Publication Type: | Case Reports; Research Support, Non-U.S. Gov't; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.61577 |
