Study
Grey Platelet Syndrome GPS
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001000091 | Other |
Study Description
As part of the Bloodomics collaboration we have several categories of pedigrees with diseases/syndromes relevant to cardiovascular diseases (CVD). One such pedigree, Grey Platelet Syndrome (GPS) is a rare congenital bleeding disorder caused by a reduction or absence of alpha granules in platelets. Exome sequencing has been performed as part of a discovery program to ascertain potential causative variants of the clinical phenotype.
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 |
---|---|---|---|
EGAD00001000029 |
Grey Platelet Syndrome (GPS)
|
Illumina Genome Analyzer II | 5 |
Who archives the data?
