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Genomicsena-DATASET-IfGH-11-05-2017-08:36:08:072-67 - samples
Clinical and genetic information of an individual with RVOT-VT and a KCNK2 (TREK1) gene mutation obtained after whole exome sequencing.
EGAD00001003328 | EGA
GenomicsWhole exome sequencing in RVOT patients
In a patient with right ventricular outflow tract (RVOT) tachycardia we identified a heterozygous point mutation in the selectivity filter of the stretch-activated K2P potassium channel TREK-1 (KCNK2 or K2P2.1). This mutation introduces abnormal sodium permeability to TREK-1 In addition, mutant chan...
EGAS00001002319 | EGA
GenomicsWhole exome sequencing in cardiovascular patients
Data Access Committee EGAC00001000621
EGAC00001000621 | EGA
GenomicsEGAD00000000028
Aggregate results from a GWAS study on 3352 cases abd 3145 controls
EGAD00000000028 | EGA
GenomicsProcardis study on novel susceptibility genes for coronary artery disease (CAD)
An increased level of Lp(a) lipoprotein has been identified as a risk factor for coronary artery disease that is highly heritable. The genetic determinants of the Lp(a) lipoprotein level and their relevance for the risk of coronary disease are incompletely understood. METHODS: We used a novel gene c...
EGAS00000000055 | EGA
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