PMC4920738_01
The mutated sequence of NCCT polymerase chain reaction (PCR) fragment. The red circle indicates a homozygous c.2687 G > A mutation of exon 23 in SLC12A3 which led to p.Arg896Gln
40064_2016_2579_Fig1_HTML.jpg
PMC4920738_01_40064_2016_2579_Fig1_HTML.jpg
Fig1
This patient carried out c. 2687 G > A homozygous mutation of exon 23 in the SLC12A3 gene which led to p.Arg896Gln which was already known as pathogenic mutation in the previous report (Kurschat et al.) (Fig. 1).