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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Main Authors: Jung Eun Moon (Author), Hee-Young Yang (Author), Gabbine Wee (Author), Suk-Hyun ParK (Author), Cheol Woo Ko (Author)
Format: Book
Published: Korean Society of Pediatric Endocrinology, 2021-03-01T00:00:00Z.
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