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

• मुख्य लेखकों: Jung Eun Moon (लेखक), Hee-Young Yang (लेखक), Gabbine Wee (लेखक), Suk-Hyun ParK (लेखक), Cheol Woo Ko (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Korean Society of Pediatric Endocrinology, 2021-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...