Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants
Abstract Biallelic pathogenic variants in the SLC34A3 gene, encoding for the NPT2c cotransporter, cause Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH). However, the associated phenotype is highly variable. In addition, mice deleted for Slc34a3 exhibit a different phenotype compared t...
Main Authors: | , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Portfolio
2023-01-01
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Series: | Scientific Reports |
Online Access: | https://doi.org/10.1038/s41598-022-25995-5 |