Vitamin D and Diseases of Mineral Homeostasis: A <i>Cyp24a1</i> R396W Humanized Preclinical Model of Infantile Hypercalcemia Type 1
Infantile hypercalcemia type 1 (HCINF1), previously known as idiopathic infantile hypercalcemia, is caused by mutations in the 25-hydroxyvitamin D 24-hydroxylase gene, <i>CYP24A1</i>. The R396W loss-of-function mutation in <i>CYP24A1</i> is the second most frequent mutated al...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-08-01
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| Series: | Nutrients |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2072-6643/14/15/3221 |