Exome Sequencing of Spanish Patients with rare genetic diseases.

ABSTRACT: Whole exome sequencing of Spanish patients suffering from a rare genetic disease. The study was carried out in 2013 as a part of a public call from CNAG (Centro Nacional de Análisis Genómico), where data of eight spanish families were sent to analyse. The study concluded with three solved cases: two of aniridia and one syndromic RP.

PROVIDER: EGAS00001004028 | EGA |

REPOSITORIES: EGA