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Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia.
Reeskamp LF, Balvers M, Peter J, van de Kerkhof L, Klaaijsen LN, Motazacker MM, Grefhorst A, van Riel NAW, Hovingh GK, Defesche JC, Zuurbier L. Reeskamp LF, et al. Among authors: peter j. Atherosclerosis. 2021 Mar;321:14-20. doi: 10.1016/j.atherosclerosis.2021.02.003. Epub 2021 Feb 8. Atherosclerosis. 2021. PMID: 33601267 Free article.
Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol.
Candini C, Schimmel AW, Peter J, Bochem AE, Holleboom AG, Vergeer M, Dullaart RP, Dallinga-Thie GM, Hovingh GK, Khoo KL, Fasano T, Bocchi L, Calandra S, Kuivenhoven JA, Motazacker MM. Candini C, et al. Among authors: peter j. Atherosclerosis. 2010 Dec;213(2):492-8. doi: 10.1016/j.atherosclerosis.2010.08.062. Epub 2010 Aug 26. Atherosclerosis. 2010. PMID: 20880529
Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase.
Holleboom AG, Kuivenhoven JA, van Olden CC, Peter J, Schimmel AW, Levels JH, Valentijn RM, Vos P, Defesche JC, Kastelein JJ, Hovingh GK, Stroes ES, Hollak CE. Holleboom AG, et al. Among authors: peter j. Atherosclerosis. 2011 May;216(1):161-5. doi: 10.1016/j.atherosclerosis.2011.01.025. Epub 2011 Jan 21. Atherosclerosis. 2011. PMID: 21315357
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.
Surendran RP, Visser ME, Heemelaar S, Wang J, Peter J, Defesche JC, Kuivenhoven JA, Hosseini M, Péterfy M, Kastelein JJ, Johansen CT, Hegele RA, Stroes ES, Dallinga-Thie GM. Surendran RP, et al. Among authors: peter j. J Intern Med. 2012 Aug;272(2):185-96. doi: 10.1111/j.1365-2796.2012.02516.x. Epub 2012 Feb 13. J Intern Med. 2012. PMID: 22239554 Free PMC article.
1,377 results