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Journal Abstract Search

203 related items for PubMed ID: 29386597

  • 21. Update of the molecular basis of familial hypercholesterolemia in The Netherlands.
    Fouchier SW, Kastelein JJ, Defesche JC.
    Hum Mutat; 2005 Dec; 26(6):550-6. PubMed ID: 16250003
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  • 22. Lipid phenotype and heritage pattern in families with genetic hypercholesterolemia not related to LDLR, APOB, PCSK9, or APOE.
    Jarauta E, Pérez-Ruiz MR, Pérez-Calahorra S, Mateo-Gallego R, Cenarro A, Cofán M, Ros E, Civeira F, Tejedor MT.
    J Clin Lipidol; 2016 Dec; 10(6):1397-1405.e2. PubMed ID: 27919357
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  • 23. Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
    Pirillo A, Garlaschelli K, Arca M, Averna M, Bertolini S, Calandra S, Tarugi P, Catapano AL, LIPIGEN Group.
    Atheroscler Suppl; 2017 Oct; 29():17-24. PubMed ID: 28965616
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  • 24. Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
    Saint-Jore B, Varret M, Dachet C, Rabès JP, Devillers M, Erlich D, Blanchard P, Krempf M, Mathé D, Chanu B, Jacotot B, Farnier M, Bonaïti-Péllié C, Junien C, Boileau C.
    Eur J Hum Genet; 2000 Aug; 8(8):621-30. PubMed ID: 10952765
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  • 26. Effect of a splice site mutation in LDLR gene and two variations in PCSK9 gene in Tunisian families with familial hypercholesterolaemia.
    Jelassi A, Slimani A, Jguirim I, Najah M, Maatouk F, Varret M, Slimane MN.
    Ann Clin Biochem; 2011 Jan; 48(Pt 1):83-6. PubMed ID: 21115573
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  • 32. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
    Abifadel M, Varret M, Rabès JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derré A, Villéger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C.
    Nat Genet; 2003 Jun; 34(2):154-6. PubMed ID: 12730697
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  • 34. The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
    Abifadel M, Rabès JP, Jambart S, Halaby G, Gannagé-Yared MH, Sarkis A, Beaino G, Varret M, Salem N, Corbani S, Aydénian H, Junien C, Munnich A, Boileau C.
    Hum Mutat; 2009 Jul; 30(7):E682-91. PubMed ID: 19319977
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  • 36. Molecular characterization of familial hypercholesterolemia in Spain.
    Palacios L, Grandoso L, Cuevas N, Olano-Martín E, Martinez A, Tejedor D, Stef M.
    Atherosclerosis; 2012 Mar; 221(1):137-42. PubMed ID: 22244043
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