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

Guven, Ayla; Al-Rijjal, Roua; BinEssa, Huda; Dogan, Durmus; Kor, Yilmaz; Zou, Minjing; Kaya, Namik; Alenezi, Anwar; Hancili, Suna; Tarim, ÖMER; Baitei, Essa; Kattan, Walaa; Meyer, Brian; Shi, Yufei

doi:10.1111/cen.13347

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-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 87 Sayı: 1
Basım Tarihi: 2017
Doi Numarası: 10.1111/cen.13347
Dergi Adı: Clinical endocrinology
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.103-112
Anahtar Kelimeler: CLCN5, FGF23, hypophosphataemia, PHEX, rickets, MOLECULAR-WEIGHT PROTEINURIA, DENT DISEASE, GENE, PHOSPHATE, DMP1, SLC34A3, NEPHROCALCINOSIS, HYPERCALCIURIA, CHILDREN
Bursa Uludağ Üniversitesi Adresli: Evet

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.