ID
45378
Beschrijving
Principal Investigator: Gail Jarvik, MD, PhD, University of Washington, Seattle, WA, USA MeSH: Hyperlipidemia, Familial Combined https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000538 The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. The research study procedures included the collection of a fasting blood sample, 2 medical history/life style questionnaires and a measurement of subjects' waist circumference that were completed many years ago. Blood samples were analyzed for metabolic markers including cholesterol, HDL, triglycerides and APOE. Genetic tests targeted known and novel genes and polymorphisms associated with carotid artery disease.
Link
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000538
Trefwoorden
Versies (2)
- 07-11-22 07-11-22 - Simon Heim
- 13-12-22 13-12-22 - Kristina Keller
Houder van rechten
Gail Jarvik, MD, PhD, University of Washington, Seattle, WA, USA
Geüploaded op
7 november 2022
DOI
Voor een aanvraag inloggen.
Licentie
Creative Commons BY 4.0
Model Commentaren :
Hier kunt u commentaar leveren op het model. U kunt de tekstballonnen bij de itemgroepen en items gebruiken om er specifiek commentaar op te geven.
Itemgroep Commentaren voor :
Item Commentaren voor :
U moet ingelogd zijn om formulieren te downloaden. AUB inloggen of schrijf u gratis in.
dbGaP phs000538 Next Generation Mendelian Genetics: Familial Combined Hyperlipidemia
Similar models
Eligibility Criteria
C0680251 (UMLS CUI [1,2])
C0023820 (UMLS CUI [1,2])
C3163633 (UMLS CUI [1,2])
C0023820 (UMLS CUI [1,3])
C0241889 (UMLS CUI [1,2])
C0007222 (UMLS CUI [1,3])