Study
Identification of genes involved in congenital disorders of glycosylation and 3 methylglutaconic aciduria
Study ID | Alternative Stable ID | Type |
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EGAS00001002064 | Other |
Study Description
Identification of genes involved in congenital disorders of glycosylation and 3-methylglutaconic aciduria.
There are more than 100 genes known for congenital disorders of glycosylation and new disorders are discovered each year. WE included patients with a so far unsolved glycosylation disease.
The diagnostic group 3-methyglutaconic aciduria is a heterogenous group of disorders mostly caused by abnormal phospholipid synthesis or in association with mitochondrial dysfunction. We included patients with a so far unsolved disease and 3-methylglutaconic aciduria.
This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/
Study Datasets 1 dataset.
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Dataset ID | Description | Technology | Samples |
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EGAD00001004038 |
Identification of genes involved in congenital disorders of glycosylation and 3-methylglutaconic aciduria.
There are more than 100 genes known for congenital disorders of glycosylation and new disorders are discovered each year. WE included patients with a so far unsolved glycosylation disease.
The diagnostic group 3-methyglutaconic aciduria is a heterogenous group of disorders mostly caused by abnormal phospholipid synthesis or in association with mitochondrial dysfunction. We included ... (Show More)
|
Illumina HiSeq 2500 | 31 |
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