Identification of a G‐Protein Subunit‐α11 Gain‐of‐Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia, inappropriately low serum parathyroid hormone concentrations and hypercalciuria. ADH is genetically heterogeneous with ADH type 1 (ADH1), the predominant form, being caused by germline gain‐of‐function mutations of the G‐protein...

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Publicat a:J Bone Miner Res
Autors principals: Piret, Sian E, Gorvin, Caroline M, Pagnamenta, Alistair T, Howles, Sarah A, Cranston, Treena, Rust, Nigel, Nesbit, M Andrew, Glaser, Ben, Taylor, Jenny C, Buchs, Andreas E, Hannan, Fadil M, Thakker, Rajesh V
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2016
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4915495/
https://ncbi.nlm.nih.gov/pubmed/26818911
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.2797
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