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Journal Abstract Search

153 related items for PubMed ID: 8956037

  • 21. Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia.
    Leitersdorf E, Hobbs HH, Fourie AM, Jacobs M, van der Westhuyzen DR, Coetzee GA.
    Proc Natl Acad Sci U S A; 1988 Nov; 85(21):7912-6. PubMed ID: 3263645
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  • 22. Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing familial hypercholesterolemia (FH-Salerno).
    Bertolini S, Patel DD, Coviello DA, Lelli N, Ghisellini M, Tiozzo R, Masturzo P, Elicio N, Knight BL, Calandra S.
    J Lipid Res; 1994 Aug; 35(8):1422-30. PubMed ID: 7989866
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  • 23. Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia. FH-Espoo.
    Koivisto PV, Koivisto UM, Kovanen PT, Gylling H, Miettinen TA, Kontula K.
    Arterioscler Thromb; 1993 Nov; 13(11):1680-8. PubMed ID: 8218110
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  • 24. Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).
    Lelli N, Garuti R, Ghisellini M, Tiozzo R, Rolleri M, Aimale V, Ginocchio E, Naselli A, Bertolini S, Calandra S.
    J Lipid Res; 1995 Jun; 36(6):1315-24. PubMed ID: 7545204
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  • 25. 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 Jun; 46(3):152-4. PubMed ID: 11310584
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  • 26. 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
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  • 27. A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.
    Meiner V, Landsberger D, Berkman N, Reshef A, Segal P, Seftel HC, van der Westhuyzen DR, Jeenah MS, Coetzee GA, Leitersdorf E.
    Am J Hum Genet; 1991 Aug; 49(2):443-9. PubMed ID: 1867200
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  • 28. Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: mutational analysis and biochemical studies.
    Assouline L, Leitersdorf E, Lambert M, Reshef A, Feoli-Fonseca JC, Levy E.
    Hum Mutat; 1997 Aug; 9(6):555-62. PubMed ID: 9195230
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  • 30. Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia.
    Hobbs HH, Brown MS, Goldstein JL, Russell DW.
    J Biol Chem; 1986 Oct 05; 261(28):13114-20. PubMed ID: 3020025
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  • 31. A novel mutation in Exon 4 of the low density lipoprotein receptor gene resulting in heterozygous familial hypercholesterolemia associated with decreased ligand binding.
    Morash BA, Tan MH, Nassar BA, Too CK, Guernsey DL.
    Atherosclerosis; 1998 Jan 05; 136(1):9-16. PubMed ID: 9544726
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  • 34. Detection of a novel exon 4 low-density lipoprotein receptor gene deletion in a swiss family with severe familial hypercholesterolemia.
    Neff D, Ruschitzka F, Hersberger M, Enseleit F, Hürlimann D, Noll G, Lüscher T, Hänseler E.
    Clin Chem Lab Med; 2003 Mar 05; 41(3):266-71. PubMed ID: 12705331
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  • 39. Phenotypic consequences of a deletion of exons 2 and 3 of the LDL receptor gene.
    Rødningen OK, Tonstad S, Medh JD, Chappell DA, Ose L, Leren TP.
    J Lipid Res; 1999 Feb 05; 40(2):213-20. PubMed ID: 9925649
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  • 40. Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia.
    Jensen HK, Jensen TG, Faergeman O, Jensen LG, Andresen BS, Corydon MJ, Andreasen PH, Hansen PS, Heath F, Bolund L, Gregersen N.
    Hum Mutat; 1997 Feb 05; 9(5):437-44. PubMed ID: 9143924
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