Chromosomal findings and sequence analysis of target exons of calcium-sensing receptor (CaSR) gene in patients with Sagliker syndrome
TURKISH JOURNAL OF MEDICAL SCIENCES, cilt.47, sa.1, ss.13-21, 2017 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 47 Sayı: 1
- Basım Tarihi: 2017
- Doi Numarası: 10.3906/sag-1507-102
- Dergi Adı: TURKISH JOURNAL OF MEDICAL SCIENCES
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.13-21
- Çukurova Üniversitesi Adresli: Evet
Özet
Background/aim: Sagliker syndrome (SS) develops as a continuation of chronic kidney disease and secondary hyperparathyroidism conditions. It was thought that there are some genetic predisposition factors leading to SS. The calcium-sensing receptor (CaSR) is essential for calcium homeostasis in the body. We aimed to examine SS patients for chromosome aberrations (CAs) and CaSR gene abnormalities in exons 2 and 3.