ID
45378
Descripción
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
Palabras clave
Versiones (2)
- 7/11/22 7/11/22 - Simon Heim
- 13/12/22 13/12/22 - Kristina Keller
Titular de derechos de autor
Gail Jarvik, MD, PhD, University of Washington, Seattle, WA, USA
Subido en
7 de noviembre de 2022
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000538 Next Generation Mendelian Genetics: Familial Combined Hyperlipidemia
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