Skip to main content
. Author manuscript; available in PMC: 2021 Mar 1.
Published in final edited form as: Kidney Int. 2019 Oct 22;97(3):567–579. doi: 10.1016/j.kint.2019.09.026

Figure 1: Flow Diagram for gene detection by panel sequencing and whole exome sequencing of likely causative monogenic mutations leading to distal renal tubular acidosis (dRTA), and candidate genes in 17 families.

Figure 1:

By panel sequencing 10 families were tested for 3 known dRTA genes. Among those 10 families, 3 families were “unsolved” and assessed for whole exome sequencing, together with 7 additional families. A likely causative mutation in a known gene was detected in 10 families (59%) and in 4 families mutations indicating novel candidate dRTA genes were discovered.