Study
Unraveling the genetic basis of a collagen migration defect in patients with a combined platelet dysfunction and reduced bone density
| Study ID | Alternative Stable ID | Type |
|---|---|---|
| EGAS00001000093 | Other |
Study Description
In this project we study cases from unrelated pedigrees that present at a young age with a phenotype which inludes hypotonia and hypodensity of bones, a chronic elevation of some liver and muscle enzymes as well as abnormal platelet number and volume. We aim to use exome sequencing to discover the causative variants reponsible for these defects.
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 |
|---|---|---|---|
| EGAD00001000109 |
Unraveling the genetic basis of a collagen migration defect in patients with a combined platelet dysfunction and reduced bone density
|
Illumina HiSeq 2000 | 29 |
Who archives the data?
