Whole-exome sequencing in diagnosing 2 cases of Gitelman syndrome

Two patients with Gitelman syndrome were admitted to the Department of Endocrinology, Third Xiangya Hospital of Central South University. The genomic DNA from the patients' peripheral blood was extracted and the whole-exome sequencing was performed to detect the possible mutations. The function...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Zhong nan da xue xue bao. Journal of Central South University. Yi xue ban 2022-03, Vol.47 (3), p.401-406
Hauptverfasser:	Xie, Rongrong, Jin, Ping, Yang, Youbo, Zhang, Qin, Xiong, Jing
Format:	Artikel
Sprache:	chi ; eng
Schlagworte:	Exome Sequencing Genetic Testing Gitelman Syndrome - diagnosis Gitelman Syndrome - genetics Humans Mutation Pedigree Solute Carrier Family 12, Member 3 - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!