Activating Mutations of the G-protein Subunit α (11) Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2

CONTEXT: Autosomal dominant hypocalcemia types 1 and 2 (ADH1 and ADH2) are caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR) and its signaling partner, the G-protein subunit α (11) (Gα (11)), respectively. More than 70 different gain-of-function CaSR mutations, but...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Gorvin, Caroline M, Stokes, Victoria J, Boon, Hannah, Cranston, Treena, Glück, Anna K, Bahl, Shailini, Homfray, Tessa, Aung, Theingi, Shine, Brian, Lines, Kate E, Hannan, Fadil M, Thakker, Rajesh V
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
Assuntos:
Clinical Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7048683/
https://ncbi.nlm.nih.gov/pubmed/31820785
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgz251
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