NOVEL VDR MUTATIONS IN PATIENTS WITH VITAMIN D-DEPENDENT RICKETS TYPE 2A: A MILD DISEASE PHENOTYPE CAUSED BY A NOVEL CANONICAL SPLICE SITE MUTATION
Demir, Korcan, Zou, Minjing, Al-Rijjal, Roua A., BinEssa, Huda, Acar, Sezer, Durmaz, Erdem, Çatlı, Gönül, Al-Enezi, Anwar F., Alzahrani, Ali S., Meyer, Brian F., Shi, YufeiLanguage:
english
Journal:
Endocrine Practice
DOI:
10.4158/EP-2019-0295
Date:
September, 2019
File:
PDF, 1.12 MB
english, 2019