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Journal Abstract Search

136 related items for PubMed ID: 7709162

  • 1. Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene.
    Solberg K, Rødningen OK, Tonstad S, Ose L, Leren TP.
    Scand J Clin Lab Invest; 1994 Dec; 54(8):605-9. PubMed ID: 7709162
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  • 3. Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation-FH469-->Stop.
    Leren TP, Solberg K, Rødningen OK, Røsby O, Tonstad S, Ose L, Berg K.
    Hum Genet; 1993 Aug; 92(1):6-10. PubMed ID: 8103503
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  • 5. Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolaemia.
    Lind S, Eriksson M, Rystedt E, Wiklund O, Angelin B, Eggertsen G.
    J Intern Med; 1998 Jul; 244(1):19-25. PubMed ID: 9698020
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  • 7. Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis.
    Sozen M, Whittall R, Humphries SE.
    Atheroscler Suppl; 2004 Dec; 5(5):7-11. PubMed ID: 15556093
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  • 11. Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.
    Lee WK, Haddad L, Macleod MJ, Dorrance AM, Wilson DJ, Gaffney D, Dominiczak MH, Packard CJ, Day IN, Humphries SE, Dominiczak AF.
    J Med Genet; 1998 Jul; 35(7):573-8. PubMed ID: 9678702
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  • 12. Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia.
    Leren TP, Sundvold H, Rødningen OK, Tonstad S, Solberg K, Ose L, Berg K.
    Hum Genet; 1995 Jun; 95(6):671-6. PubMed ID: 7789953
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  • 13. Identification of four novel mutations of the low-density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia.
    Shin JA, Kim SH, Kim UK, Chae JJ, Choe SJ, Namkoong Y, Kim HS, Park YB, Lee CC.
    Clin Genet; 2000 Mar; 57(3):225-9. PubMed ID: 10782930
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  • 14. Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population.
    Gudnason V, Sigurdsson G, Nissen H, Humphries SE.
    Hum Mutat; 1997 Mar; 10(1):36-44. PubMed ID: 9222758
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  • 15. Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.
    Leren TP, Solberg K, Rødningen OK, Tonstad S, Ose L.
    Hum Genet; 1995 Aug; 96(2):241-2. PubMed ID: 7635482
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  • 16. Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].
    Yu L, Heere-Ress E, Boucher B, Defesche JC, Kastelein J, Lavoie MA, Genest J.
    Atherosclerosis; 1999 Sep; 146(1):125-31. PubMed ID: 10487495
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  • 17. High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing.
    Jensen HK, Jensen LG, Hansen PS, Faergeman O, Gregersen N.
    Clin Chem; 1996 Aug; 42(8 Pt 1):1140-6. PubMed ID: 8697568
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  • 18. Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.
    Callis M, Jansen S, Thiart R, de Villiers JN, Raal FJ, Kotze MJ.
    Mol Cell Probes; 1998 Jun; 12(3):149-52. PubMed ID: 9664576
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  • 19. Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK.
    King-Underwood L, Gudnason V, Humphries S, Seed M, Patel D, Knight B, Soutar A.
    Clin Genet; 1991 Jul; 40(1):17-28. PubMed ID: 1884514
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  • 20. Identification of a novel mutation in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families.
    Cenarro A, Jensen HK, Casao E, Civeira F, Gonzàlez-Bonillo J, Pocoví M, Gregersen N.
    Biochim Biophys Acta; 1996 May 24; 1316(1):1-4. PubMed ID: 8634338
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