This study evidences that NGS is labor and cost effective for the analysis of DRTA genes. Our results show for the first time SLC4A1 gene mutations in Spanish patients and disclose that compound heterozygosity at two different genes can be responsible for DRTA.
We use our own and third-party cookies to improve our services, customize our web site, enhance User browsing experience, measure and obtain usage statistics. By clicking on "Accept" you ACCEPT ITS USE. You can also CONFIGURE OR REFUSE the installation of cookies by clicking on "Settings" or "Reject". For more information, read our Cookies Policy.