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?

There are no publications available