ID
45378
Descrição
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
Palavras-chave
Versões (2)
- 07/11/2022 07/11/2022 - Simon Heim
- 13/12/2022 13/12/2022 - Kristina Keller
Titular dos direitos
Gail Jarvik, MD, PhD, University of Washington, Seattle, WA, USA
Transferido a
7 de novembro de 2022
DOI
Para um pedido faça login.
Licença
Creative Commons BY 4.0
Comentários do modelo :
Aqui pode comentar o modelo. Pode comentá-lo especificamente através dos balões de texto nos grupos de itens e itens.
Comentários do grupo de itens para :
Comentários do item para :
Para descarregar formulários, precisa de ter uma sessão iniciada. Por favor faça login ou registe-se gratuitamente.
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])