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.

Accept Refuse Configuration More info

Advanced cookie settings

Obligatories

We use mandatory cookies to perform essential functions of the website. For example, are used to log in, save your language preferences, offer a car experience purchase, improve performance, redirect traffic between web servers, detect the size of your screen, determine page load times, improve user experience and measure the audience. These cookies are necessary for the operation of our websites.

Analysis Cookies

They are those that well treated by us or by third parties, allow us to quantify the number of users and thus carry out the measurement and statistical analysis of the use made by users of the service offered. For this, your browsing on our website is analyzed in order to improve the offer of products or services that we offer you.

Cookies publicitaires

Third party cookies

We and other third parties use social media cookies to show you ads and content. based on your profiles on social networks and the activities you carry out on our websites. If the user decides to use the social registry, he authorizes the social network to store a persistent Cookie that remembers your identification in the service, so that user access to the digital editions on subsequent visits.

Reset all Save change
es en

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing

May 31 2017
Inicio Scientific Production Primary distal renal tubular acidos ...
Distal Renal Tubal Acidosis; Genetic analysis; Genes ATP6V1B1 ATP6V0A4 and SLC4A1; Mass sequencing.

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.