A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria

BACKGROUND: Familial Hyperparathyroidism (HPT) and Familial benign Hypocalciuric Hypercalcemia (FHH) are the most common causes of hereditary hypercalcemia. FHH has been demonstrated to be caused by inactivating mutations of calcium-sensing receptor (CaSR) gene, involved in PTH regulation as well as...

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Библиографические подробности
Главные авторы: Mastromatteo, Eugenio, Lamacchia, Olga, Campo, Michela Rosaria, Conserva, Antonella, Baorda, Filomena, Cinque, Luigia, Guarnieri, Vito, Scillitani, Alfredo, Cignarelli, Mauro
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2014
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4197257/
https://ncbi.nlm.nih.gov/pubmed/25292184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1472-6823-14-81
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