Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidu...
Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation
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London: Nature Publishing Group UK
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Language
English
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London: Nature Publishing Group UK
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Contents
Nephrogenic diabetes insipidus (NDI) is a rare tubulopathy characterized by urinary concentration defect due to renal resistance to vasopressin. Loss-of-function mutations of vasopressin V2 receptor (V2R) gene (
AVPR2
) is the most common cause of the disease. We have identified five novel mutations L86P, R113Q, C192S, M272R, and W323_I324ins...
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Full title
Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7532466
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7532466
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-020-73089-x
