An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathy.
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| Title: | An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathy. |
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| Authors: | Lopes LR; Institute of Cardiovascular Science, University College London, London, UK. luis.lopes.10@ucl.ac.uk.; St. Bartholomew's Hospital, Barts Heart Centre, London, UK. luis.lopes.10@ucl.ac.uk.; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK. luis.lopes.10@ucl.ac.uk., Macken WL; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Preez SD; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Kotwal H; St. Bartholomew's Hospital, Barts Heart Centre, London, UK., Savvatis K; Institute of Cardiovascular Science, University College London, London, UK.; St. Bartholomew's Hospital, Barts Heart Centre, London, UK.; William Harvey Institute, Queen Mary University of London, London, UK.; NIHR University College London Hospitals Biomedical Research Centre, London, UK., Sekhri N; St. Bartholomew's Hospital, Barts Heart Centre, London, UK., Mohiddin SA; St. Bartholomew's Hospital, Barts Heart Centre, London, UK.; William Harvey Institute, Queen Mary University of London, London, UK., Kabiljo R; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK., Pitceathly RDS; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK. r.pitceathly@ucl.ac.uk.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK. r.pitceathly@ucl.ac.uk. |
| Source: | Human genomics [Hum Genomics] 2024 Dec 05; Vol. 18 (1), pp. 136. Date of Electronic Publication: 2024 Dec 05. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39639347 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Lopes+LR%22">Lopes LR</searchLink>; Institute of Cardiovascular Science, University College London, London, UK. luis.lopes.10@ucl.ac.uk.; St. Bartholomew's Hospital, Barts Heart Centre, London, UK. luis.lopes.10@ucl.ac.uk.; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK. luis.lopes.10@ucl.ac.uk.<br /><searchLink fieldCode="AU" term="%22Macken+WL%22">Macken WL</searchLink>; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.<br /><searchLink fieldCode="AU" term="%22Preez+SD%22">Preez SD</searchLink>; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.<br /><searchLink fieldCode="AU" term="%22Kotwal+H%22">Kotwal H</searchLink>; St. Bartholomew's Hospital, Barts Heart Centre, London, UK.<br /><searchLink fieldCode="AU" term="%22Savvatis+K%22">Savvatis K</searchLink>; Institute of Cardiovascular Science, University College London, London, UK.; St. Bartholomew's Hospital, Barts Heart Centre, London, UK.; William Harvey Institute, Queen Mary University of London, London, UK.; NIHR University College London Hospitals Biomedical Research Centre, London, UK.<br /><searchLink fieldCode="AU" term="%22Sekhri+N%22">Sekhri N</searchLink>; St. Bartholomew's Hospital, Barts Heart Centre, London, UK.<br /><searchLink fieldCode="AU" term="%22Mohiddin+SA%22">Mohiddin SA</searchLink>; St. Bartholomew's Hospital, Barts Heart Centre, London, UK.; William Harvey Institute, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Kabiljo+R%22">Kabiljo R</searchLink>; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Pitceathly+RDS%22">Pitceathly RDS</searchLink>; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK. r.pitceathly@ucl.ac.uk.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK. r.pitceathly@ucl.ac.uk. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101202210%22">Human genomics</searchLink> [Hum Genomics] 2024 Dec 05; Vol. 18 (1), pp. 136. <i>Date of Electronic Publication: </i>2024 Dec 05. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101202210 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1479-7364 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214739542%22">14739542 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genomics <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39639347 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s40246-024-00702-9 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 136 Titles: – TitleFull: An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Lopes LR – PersonEntity: Name: NameFull: Macken WL – PersonEntity: Name: NameFull: Preez SD – PersonEntity: Name: NameFull: Kotwal H – PersonEntity: Name: NameFull: Savvatis K – PersonEntity: Name: NameFull: Sekhri N – PersonEntity: Name: NameFull: Mohiddin SA – PersonEntity: Name: NameFull: Kabiljo R – PersonEntity: Name: NameFull: Pitceathly RDS IsPartOfRelationships: – BibEntity: Dates: – D: 05 M: 12 Text: 2024 Dec 05 Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1479-7364 Numbering: – Type: volume Value: 18 – Type: issue Value: 1 Titles: – TitleFull: Human genomics Type: main |
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