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- Study Description
This is a cohort of patients with extreme hypertriglyceridemia. Patients have been screened for loss of function mutations in LPL, GPIHBP1, APOC2, APOA5 and LMF1.
- Authorized Access
- Publicly Available Data (Public ftp)
Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.
- Study Inclusion/Exclusion Criteria
- See Surendran RP et al., J Inte Med, 2012
- TG >10 mmol/l
- Alcohol abuse
- Uncontrolled diabetes
- Molecular Data
Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment Whole Exome Sequencing Agilent SureSelect Human All Exon v.2 Kit N/A N/A
- Study History
This is a cohort collected at the outpatient clinic of the AMC. Patients have been collected in the past 15 years.
- Selected publications
- Diseases/Traits Related to Study (MESH terms)
- Primary Phenotype: Hypertriglyceridemia
- Links to Related Resources
- Authorized Data Access Requests
- Study Attribution