Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population-Reference-Cited by-同舟云学术

Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population

Published:2020-06 Issue:6 Volume:106 Page:734-747
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Dershem Ridge,Gorvin Caroline M.,Metpally Raghu P.R.,Krishnamurthy Sarathbabu,Smelser Diane T.,Hannan Fadil M.,Carey David J.,Thakker Rajesh V.,Breitwieser Gerda E.^ORCID

Funder

Geisinger

Wellcome Trust

National Institute for Health Research Senior Investigator Award

National Institute for Health Research Oxford Biomedical Research Centre Programme

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference38 articles.

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3. Calcium-sensing receptor (CaSR): pharmacological properties and signaling pathways;Conigrave;Best Pract. Res. Clin. Endocrinol. Metab.,2013

4. AP2σ mutations impair calcium-sensing receptor trafficking and signaling, and show an endosomal pathway to spatially direct G-protein selectivity;Gorvin;Cell Rep.,2018

5. Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism;Hannan;Best Pract. Res. Clin. Endocrinol. Metab.,2013

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