Gene Mutations in Chronic Kidney Disease Patients With Secondary Hyperparathyroidism and Sagliker Syndrome

Sagliker syndrome (SS) develops particularly before puberty while chronic kidney disease (CKD) reaches stage 3 with overt secondary hyperparathyroidism. We conducted screening for mutations in all the 13 exons of GNAS1 gene, all 3 exons of FGF23, and all 18 exons in FGFR3 genes in 23 patients. In 73...

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Veröffentlicht in:	Journal of renal nutrition 2015-03, Vol.25 (2), p.176-186
Hauptverfasser:	Demirhan, Osman, PhD, Arslan, Ahmet, PhD, Sagliker, Yahya, MD, Akbal, Eylul, PhD, Ergun, Sercan, Bayraktar, Recep, Sagliker, Hasan Sabit, MD, Dogan, Ekrem, MD, Gunesacar, Ramazan, PhD, Ozkaynak, Piril Sagliker, MD
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Child Craniofacial Abnormalities - genetics Female Humans Hyperparathyroidism, Secondary - genetics Male Mutation, Missense - genetics Nephrology Renal Insufficiency, Chronic - genetics Syndrome
Online-Zugang:	Volltext
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