Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones.
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| Title: | Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones. |
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| Authors: | Jabalameli MR; Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK., Fitzpatrick FM; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK., Colombo R; Faculty of Medicine 'Agostino Gemelli', Catholic University of the Sacred Heart, Rome, Italy.; Center for the Study of Rare Inherited Diseases, Niguarda Ca´Granda Metropolitan Hospital, Milan, Italy., Howles SA; Nuffield Department of Surgical Sciences, University of Oxford, Oxford, UK.; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Leggatt G; Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK.; Wessex Kidney Centre, Queen Alexandra Hospital, Portsmouth, UK., Walker V; Department of Clinical Biochemistry, University Hospital Southampton, Southampton, UK., Wiberg A; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK., Kunji ERS; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK., Ennis S; Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK. |
| Source: | Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Dec; Vol. 9 (12), pp. e1749. Date of Electronic Publication: 2021 Aug 04. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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