Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets


Guven A., Al-Rijjal R. A. , BinEssa H. A. , Dogan D. , Kor Y., Zou M., ...Daha Fazla

CLINICAL ENDOCRINOLOGY, cilt.87, sa.1, ss.103-112, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 87 Konu: 1
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1111/cen.13347
  • Dergi Adı: CLINICAL ENDOCRINOLOGY
  • Sayfa Sayıları: ss.103-112

Özet

ContextHypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3.