A cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe)

A cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe)

Purpose Autosomal dominant hypocalcemia with hypercalciuria is a genetic disease characterized by hypoparathyroidism with hypercalciuria. We discovered a novel variant (p.Tyr825Phe[Y825F]) of the CASR gene in a neonate with congenital hypoparathyroidism and hypercalciuria and conducted a cell functi...

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Bibliographic Details
Main Authors: Jung Eun Moon, Hee-Young Yang, Gabbine Wee, Suk-Hyun ParK, Cheol Woo Ko
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2021-03-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
hypercalciuric hypocalcemia
hypoparathyroidism
ca-sensing receptor
point mutation
Online Access:http://e-apem.org/upload/pdf/apem-2040022-011.pdf

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