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: | , , , , |
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| Format: | Book |
| Published: |
Korean Society of Pediatric Endocrinology,
2021-03-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |