Whole Exome Sequencing of Spanish Patients diagnosed with rare ophtalmogenetic disorders: Macular Dystrophy, Retinitis Pigmentosa and Leber's congenital amaurosis.
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ABSTRACT: Whole exome sequencing of Spanish patients suffering from a rare genetic eye disease. The study was carried out in 2016 as a part of a public call from CNAG (Centro Nacional de Análisis Genómico), where data of ten spanish families were sent to analyse with NGS techniques. The study concluded with four solved cases: one with Macular Dystrophy, one with Retinitis Pigmentosa and two with Leber's congenital amaurosis.
PROVIDER: EGAS00001004084 | EGA |
REPOSITORIES: EGA
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