Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
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| Title: | Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2). |
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| Authors: | Piret SE; Academic Endocrine Unit, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK., Gorvin CM; Academic Endocrine Unit, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK., Pagnamenta AT; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, UK.; Oxford NIHR Comprehensive Biomedical Research Centre, Oxford, UK., Howles SA; Academic Endocrine Unit, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK., Cranston T; Oxford University Hospitals NHS Trust, Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, UK., Rust N; Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, UK., Nesbit MA; Academic Endocrine Unit, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK.; Biomedical Sciences Research Institute, Ulster University, Coleraine, UK., Glaser B; Department of Internal Medicine, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Taylor JC; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, UK.; Oxford NIHR Comprehensive Biomedical Research Centre, Oxford, UK., Buchs AE; Department of Medicine D, Assaf Harofe Medical Center, Zerifin, Israel., Hannan FM; Academic Endocrine Unit, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK.; Department of Musculoskeletal Biology, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK., Thakker RV; Academic Endocrine Unit, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK.; Oxford NIHR Comprehensive Biomedical Research Centre, Oxford, UK. |
| Source: | Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2016 Jun; Vol. 31 (6), pp. 1207-14. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 26818911 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2). – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Piret+SE%22">Piret SE</searchLink>; Academic Endocrine Unit, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Gorvin+CM%22">Gorvin CM</searchLink>; Academic Endocrine Unit, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Pagnamenta+AT%22">Pagnamenta AT</searchLink>; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, UK.; Oxford NIHR Comprehensive Biomedical Research Centre, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Howles+SA%22">Howles SA</searchLink>; Academic Endocrine Unit, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Cranston+T%22">Cranston T</searchLink>; Oxford University Hospitals NHS Trust, Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Rust+N%22">Rust N</searchLink>; Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Nesbit+MA%22">Nesbit MA</searchLink>; Academic Endocrine Unit, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK.; Biomedical Sciences Research Institute, Ulster University, Coleraine, UK.<br /><searchLink fieldCode="AU" term="%22Glaser+B%22">Glaser B</searchLink>; Department of Internal Medicine, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Taylor+JC%22">Taylor JC</searchLink>; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, UK.; Oxford NIHR Comprehensive Biomedical Research Centre, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Buchs+AE%22">Buchs AE</searchLink>; Department of Medicine D, Assaf Harofe Medical Center, Zerifin, Israel.<br /><searchLink fieldCode="AU" term="%22Hannan+FM%22">Hannan FM</searchLink>; Academic Endocrine Unit, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK.; Department of Musculoskeletal Biology, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.<br /><searchLink fieldCode="AU" term="%22Thakker+RV%22">Thakker RV</searchLink>; Academic Endocrine Unit, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK.; Oxford NIHR Comprehensive Biomedical Research Centre, Oxford, UK. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%228610640%22">Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research</searchLink> [J Bone Miner Res] 2016 Jun; Vol. 31 (6), pp. 1207-14. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>8610640 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1523-4681 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208840431%22">08840431 </searchLink><i>NLM ISO Abbreviation: </i>J Bone Miner Res <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=26818911 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/jbmr.2797 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1207 Titles: – TitleFull: Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2). Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Piret SE – PersonEntity: Name: NameFull: Gorvin CM – PersonEntity: Name: NameFull: Pagnamenta AT – PersonEntity: Name: NameFull: Howles SA – PersonEntity: Name: NameFull: Cranston T – PersonEntity: Name: NameFull: Rust N – PersonEntity: Name: NameFull: Nesbit MA – PersonEntity: Name: NameFull: Glaser B – PersonEntity: Name: NameFull: Taylor JC – PersonEntity: Name: NameFull: Buchs AE – PersonEntity: Name: NameFull: Hannan FM – PersonEntity: Name: NameFull: Thakker RV IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2016 Jun Type: published Y: 2016 Identifiers: – Type: issn-electronic Value: 1523-4681 Numbering: – Type: volume Value: 31 – Type: issue Value: 6 Titles: – TitleFull: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research Type: main |
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