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284 related items for PubMed ID: 28645073

  • 1. Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene.
    Jiang L, Benito-Vicente A, Tang L, Etxebarria A, Cui W, Uribe KB, Pan XD, Ostolaza H, Yang SW, Zhou YJ, Martin C, Wang LY.
    Atherosclerosis; 2017 Aug; 263():163-170. PubMed ID: 28645073
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  • 4. 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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  • 6. Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia.
    Rodríguez-Jiménez C, Pernía O, Mostaza J, Rodríguez-Antolín C, de Dios García-Díaz J, Alonso-Cerezo C, García-Polo I, Blanco A, Lahoz C, Arrieta F, Beltrán L, Díaz de Bustamante A, Garzón-Lorenzo L, Álvarez-Sala LA, Asenjo Á, Ibáñez de Cáceres I, Rodríguez-Nóvoa S.
    Hum Mutat; 2019 Aug; 40(8):1181-1190. PubMed ID: 31106925
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  • 8. Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.
    Setia N, Saxena R, Arora A, Verma IC.
    Atherosclerosis; 2016 Dec; 255():31-36. PubMed ID: 27816806
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  • 17. p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro.
    Benito-Vicente A, Siddiqi H, Uribe KB, Jebari S, Galicia-Garcia U, Larrea-Sebal A, Stef M, Ostolaza H, Palacios L, Martin C.
    Sci Rep; 2018 Nov 09; 8(1):16614. PubMed ID: 30413722
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  • 18. Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia.
    Hernández Flores TJ, González García JR, Colima Fausto AG, Vázquez Cárdenas NA, Sánchez López Y, Zarate Morales CA, Magaña Torres MT.
    J Clin Lipidol; 2018 Nov 09; 12(3):693-701. PubMed ID: 29576406
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  • 19. Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.
    Etxebarria A, Benito-Vicente A, Stef M, Ostolaza H, Palacios L, Martin C.
    Atherosclerosis; 2015 Feb 09; 238(2):304-12. PubMed ID: 25545329
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  • 20. Functional characterization and classification of frequent low-density lipoprotein receptor variants.
    Etxebarria A, Benito-Vicente A, Palacios L, Stef M, Cenarro A, Civeira F, Ostolaza H, Martin C.
    Hum Mutat; 2015 Jan 09; 36(1):129-41. PubMed ID: 25378237
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