Konu "CLCN5" için Araştırma Çıktıları | TR-Dizin | WoS | Scopus | PubMed listeleme
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Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets
(WILEY, 2017)ContextHypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3. ObjectiveTo investigate underlying genetic defects ...