This is a cohort collected at the outpatient clinic of the AMC. Patients have been collected in the past 15 years.
"],"attribution":["Principal Investigator - E.S.G.Stroes, Prof. Dr - AMC, University of Amsterdam, Amsterdam, The Netherlands","Funding Source - U54 HG003067 - National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA","Principal Investigator - G.M.Dallinga-Thie, PhD - AMC, University of Amsterdam, Amsterdam, The Netherlands","Co-Investigator - Sekar Kathiresan, MD - Massachusetts General Hospital, Boston, MA, USA"],"repository":["dbGaP"],"description_synonyms":["3.1.1.34, RGD1564237, lc64p, ApoC2, JFP11, Tmem112., APOAV, HEL-S-37, Apo C II, LIPD, UNQ411/PRO773, Hypertriglyceridemias, function, 2400010G15Rik, cld, GPI-HBP1, APOC-II, Client, PLS2, Mutations, HYPL1D, 1110002J19Rik, pls2, Apolipoprotein C 2, APO-CII, Apoprotein C-II, LC64P, Apolipoprotein C II, Apo C-II, HMFN1876, cp64, HDLCQ11, C16orf26, LPL, L-PLASTIN, Apoprotein C II, l-plastin, AW822050, Apolipoprotein CII, 1300007O05Rik, Apolipoprotein C-2, hypertriglyceridemia (disease), loss of, TMEM112A, hypertriglyceridemia, Patient, lpl, Clients, TMEM112, CP64, RAP3, Apoav"],"additional_accession":[]},"is_claimable":false,"name":"Treatment of Genetic Screening of Hypertriglyceridemia type I, III, and V - HTG Amsterdam","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.
","dates":{"last_modification":"2012-10-02","creation":"2012-07-06"},"accession":"phs000511","cross_references":{"MESH":["Hypertriglyceridemia"],"PMID":["22239554","21597005","20657596"]}}