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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| Formaat: | Boek |
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Korean Society of Pediatric Endocrinology,
2021-03-01T00:00:00Z.
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A1234.567 |
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| Kopie 1 | Beschikbaar |