Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report
Background/Aims: The CYP24A1 gene encodes the vitamin D 24-hydroxylase enzyme, which hydroxylates active forms of vitamin D into inactive forms. Biallelic mutations in the CYP24A1 gene can lead to elevated levels of active vitamin D metabolites and, consequently, to hypercalcemia, hypercalciuria, ne...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2019-07-01
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| Series: | Kidney & Blood Pressure Research |
| Subjects: | |
| Online Access: | https://www.karger.com/Article/FullText/500922 |