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Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets
Guven, Ayla; Al-Rijjal, Roua A.; BinEssa, Huda A.; Dogan, Durmus; Kor, Yilmaz; Zou, Minjing; Kaya, Namik; Alenezi, Anwar F.; Hancili, Suna; Tarim, Omer; Baitei, Essa Y.; Kattan, Walaa E.; Meyer, Brian F.; Shi, Yufei (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 ...