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6. An integration-free iPSC line ZZUNEUi029-A derived from peripheral blood mononuclear cells of a patient with familial hypercholesterolemia carrying a mutation in LDLR gene. Zhu K; Zhao J; Qin F; Chen X; Xu H; Li X; Tao H Stem Cell Res; 2023 Sep; 71():103182. PubMed ID: 37586167 [TBL] [Abstract][Full Text] [Related]
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10. Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R). Schaefer JR; Kurt B; Sattler A; Klaus G; Soufi M Clin Res Cardiol Suppl; 2012 Jun; 7(Suppl 1):2-6. PubMed ID: 22528129 [TBL] [Abstract][Full Text] [Related]
11. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark. Jensen HK Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167 [TBL] [Abstract][Full Text] [Related]
12. Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent. Wang J; Huff E; Janecka L; Hegele RA Hum Mutat; 2001 Oct; 18(4):359. PubMed ID: 11668627 [TBL] [Abstract][Full Text] [Related]
13. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene. Wang D; Wu B; Li Y; Heng W; Zhong H; Mu Y; Wang J J Hum Genet; 2001; 46(3):152-4. PubMed ID: 11310584 [TBL] [Abstract][Full Text] [Related]
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18. Independent Severe Cases of Heterozygous Familial Hypercholesterolemia Caused by the W483X and Novel W483G Mutations in the Low-Density Lipoprotein Receptor Gene That Were Clinically Diagnosed as Homozygous Cases. Cheng S; Wu Y; Wen W; An M; Gao Y; Wang L; Han X; Shang H Genet Test Mol Biomarkers; 2019 Jun; 23(6):401-408. PubMed ID: 31161821 [No Abstract] [Full Text] [Related]
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20. A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia. Moffa S; Onori ME; De Paolis E; Ricciardi Tenore C; Perrucci A; Pontecorvi A; Giaccari A; Urbani A; Minucci A Mol Biol Rep; 2022 Feb; 49(2):1623-1630. PubMed ID: 34846648 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]