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).
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
Description
ISSN:1523-4681
DOI:10.1002/jbmr.2797