Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.
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| Title: | Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland. |
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| Authors: | Kerr SM; MRC Human Genetics Unit, University of Edinburgh, Institute of Genetics and Cancer, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK., Klaric L; MRC Human Genetics Unit, University of Edinburgh, Institute of Genetics and Cancer, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK., Muckian MD; Centre for Global Health Research, Usher Institute, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, UK.; Department of Infectious Disease Epidemiology, London School of Hygiene & Tropical Medicine, Keppel Street, London, WC1E 7HT, UK., Cowan E; Department of Medical Genetics, Ashgrove House, NHS Grampian, Aberdeen, AB25 2ZA, UK., Snadden L; Department of Medical Genetics, Ashgrove House, NHS Grampian, Aberdeen, AB25 2ZA, UK., Tzoneva G; Regeneron Genetics Center, Tarrytown, NY, USA., Shuldiner AR; Regeneron Genetics Center, Tarrytown, NY, USA., Miedzybrodzka Z; Department of Medical Genetics, Ashgrove House, NHS Grampian, Aberdeen, AB25 2ZA, UK.; Medical Genetics Group, University of Aberdeen, Polwarth Building, Aberdeen, AB25 2ZD, UK., Wilson JF; MRC Human Genetics Unit, University of Edinburgh, Institute of Genetics and Cancer, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK. jim.wilson@ed.ac.uk.; Centre for Global Health Research, Usher Institute, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, UK. jim.wilson@ed.ac.uk.; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK. jim.wilson@ed.ac.uk. |
| Source: | European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Dec; Vol. 32 (12), pp. 1624-1631. Date of Electronic Publication: 2024 Oct 22. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39438716 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Kerr+SM%22">Kerr SM</searchLink>; MRC Human Genetics Unit, University of Edinburgh, Institute of Genetics and Cancer, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.<br /><searchLink fieldCode="AU" term="%22Klaric+L%22">Klaric L</searchLink>; MRC Human Genetics Unit, University of Edinburgh, Institute of Genetics and Cancer, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.<br /><searchLink fieldCode="AU" term="%22Muckian+MD%22">Muckian MD</searchLink>; Centre for Global Health Research, Usher Institute, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, UK.; Department of Infectious Disease Epidemiology, London School of Hygiene & Tropical Medicine, Keppel Street, London, WC1E 7HT, UK.<br /><searchLink fieldCode="AU" term="%22Cowan+E%22">Cowan E</searchLink>; Department of Medical Genetics, Ashgrove House, NHS Grampian, Aberdeen, AB25 2ZA, UK.<br /><searchLink fieldCode="AU" term="%22Snadden+L%22">Snadden L</searchLink>; Department of Medical Genetics, Ashgrove House, NHS Grampian, Aberdeen, AB25 2ZA, UK.<br /><searchLink fieldCode="AU" term="%22Tzoneva+G%22">Tzoneva G</searchLink>; Regeneron Genetics Center, Tarrytown, NY, USA.<br /><searchLink fieldCode="AU" term="%22Shuldiner+AR%22">Shuldiner AR</searchLink>; Regeneron Genetics Center, Tarrytown, NY, USA.<br /><searchLink fieldCode="AU" term="%22Miedzybrodzka+Z%22">Miedzybrodzka Z</searchLink>; Department of Medical Genetics, Ashgrove House, NHS Grampian, Aberdeen, AB25 2ZA, UK.; Medical Genetics Group, University of Aberdeen, Polwarth Building, Aberdeen, AB25 2ZD, UK.<br /><searchLink fieldCode="AU" term="%22Wilson+JF%22">Wilson JF</searchLink>; MRC Human Genetics Unit, University of Edinburgh, Institute of Genetics and Cancer, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK. jim.wilson@ed.ac.uk.; Centre for Global Health Research, Usher Institute, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, UK. jim.wilson@ed.ac.uk.; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK. jim.wilson@ed.ac.uk. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2024 Dec; Vol. 32 (12), pp. 1624-1631. <i>Date of Electronic Publication: </i>2024 Oct 22. – 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="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39438716 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41431-024-01704-w Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1624 Titles: – TitleFull: Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Kerr SM – PersonEntity: Name: NameFull: Klaric L – PersonEntity: Name: NameFull: Muckian MD – PersonEntity: Name: NameFull: Cowan E – PersonEntity: Name: NameFull: Snadden L – PersonEntity: Name: NameFull: Tzoneva G – PersonEntity: Name: NameFull: Shuldiner AR – PersonEntity: Name: NameFull: Miedzybrodzka Z – PersonEntity: Name: NameFull: Wilson JF IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: 2024 Dec Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1476-5438 Numbering: – Type: volume Value: 32 – Type: issue Value: 12 Titles: – TitleFull: European journal of human genetics : EJHG Type: main |
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