Whole Exome Sequencing of Spanish Patients diagnosed with rare ophtalmogenetic disorders: Macular Dystrophy, Retinitis Pigmentosa and Leber's congenital amaurosis.

Study

Study ID	Alternative Stable ID	Type
EGAS00001004084		Exome Sequencing

Study Description

Study Datasets 1 dataset.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001005746	Whole Exome sequencing of a set of Spanish patients suffering rare genetic diseases. The set consists of 4 patients, one was diagnosed with Retinitis Pigmentosa (RP-1629), another one was diagnosed with Macular Dystrophy (MD-0235) and two were diagnosed with Leber's Congenital Amaurosis (LCA-0081 and LCA-0103). Whole Exome sequencing of a set of Spanish patients suffering rare genetic diseases. The set consists of 4 patients, one was diagnosed with Retinitis Pigmentosa (RP-1629), another one was diagnosed with Macular Dystrophy (MD-0235) and two were diagnosed with Leber's Congenital Amaurosis (LCA-0081 and LCA-0103).	unspecified	4

Who archives the data?

Publications

Citations

Retrieving...