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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.
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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  Data: Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones.
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  Data: <searchLink fieldCode="AU" term="%22Jabalameli+MR%22">Jabalameli MR</searchLink>; Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Fitzpatrick+FM%22">Fitzpatrick FM</searchLink>; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Colombo+R%22">Colombo R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Howles+SA%22">Howles SA</searchLink>; Nuffield Department of Surgical Sciences, University of Oxford, Oxford, UK.; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Leggatt+G%22">Leggatt G</searchLink>; Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK.; Wessex Kidney Centre, Queen Alexandra Hospital, Portsmouth, UK.<br /><searchLink fieldCode="AU" term="%22Walker+V%22">Walker V</searchLink>; Department of Clinical Biochemistry, University Hospital Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Wiberg+A%22">Wiberg A</searchLink>; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Kunji+ERS%22">Kunji ERS</searchLink>; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Ennis+S%22">Ennis S</searchLink>; Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK.
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  Data: <searchLink fieldCode="JN" term="%22101603758%22">Molecular genetics & genomic medicine</searchLink> [Mol Genet Genomic Med] 2021 Dec; Vol. 9 (12), pp. e1749. <i>Date of Electronic Publication: </i>2021 Aug 04.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22John+Wiley+%26+Sons%22">John Wiley & Sons </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101603758 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2324-9269 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223249269%22">23249269 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Genomic Med <i>Subsets: </i>MEDLINE
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              Text: 2021 Dec
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