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Journal Abstract Search

1272 related items for PubMed ID: 15497035

  • 21. Two novel mutations 685del 1 and D129G in the low-density lipoprotein receptor gene in a compound heterozygote Chinese family with familial hypercholesterolemia.
    Chen K, Mu YM, Wang BA, Guo QH, Lu ZH, Dou JT, Lu JM.
    Metabolism; 2007 May; 56(5):636-40. PubMed ID: 17445538
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  • 25. 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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  • 27. Familial hypercholesterolemia and familial defective apolipoprotein B-100: comparison of the phenotypic expression In 116 cases.
    Brugger D, Schuster H, Zöllner N.
    Eur J Med Res; 1996 May 24; 1(8):383-6. PubMed ID: 9360938
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  • 28. Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.
    Miltiadous G, Elisaf M, Bairaktari H, Xenophontos SL, Manoli P, Cariolou MA.
    Hum Mutat; 2001 May 24; 17(5):432-3. PubMed ID: 11317361
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  • 29. [Relationship between changes in activities of low density lipoprotein receptor and gene mutation in familial hypercholesterolemia].
    Pang Q, Li M, Hu W, Chen Q, Li X, Fan L.
    Zhonghua Nei Ke Za Zhi; 2002 Oct 24; 41(10):667-70. PubMed ID: 12485531
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  • 30. FH-Sydney 1 and 2: two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation.
    Cavanaugh JA, Easteal S, Simons LA, Thomas DW, Serjeantson SW.
    Hum Mutat; 1994 Oct 24; 4(4):276-80. PubMed ID: 7866407
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  • 33. Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia.
    Feussner G, Dobmeyer J, Nissen H, Hansen TS.
    Am J Med Genet; 1996 Oct 16; 65(2):149-54. PubMed ID: 8911609
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  • 35. [Genotype-phenotype analysis of a homozygous familial hypercholesterolemia pedigree].
    Wang DY, Zhang YM, Che FY, Chu JP, Zhang LY, Li H, Liu BL, Yao ZY, Zhao YW.
    Zhonghua Er Ke Za Zhi; 2020 Feb 02; 58(2):101-106. PubMed ID: 32102145
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  • 36. Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.
    Real JT, Chaves FJ, Ejarque I, García-García AB, Valldecabres C, Ascaso JF, Armengod ME, Carmena R.
    Eur J Hum Genet; 2003 Dec 02; 11(12):959-65. PubMed ID: 14508510
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  • 37. Use of the single strand conformation polymorphism method for rapid screening for mutations in the low density lipoprotein receptor gene in patients with familial hypercholesterolemia: effect on plasma lipid levels of different classes of mutations.
    Gudnason V, Day IN, Humphries SE.
    Z Gastroenterol; 1996 Jun 02; 34 Suppl 3():6-8. PubMed ID: 8767444
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  • 38. Analysis of the Afrikaner mutation in exon 9 of the low-density lipoprotein receptor gene in a large Dutch kindred suffering from familial hypercholesterolaemia.
    Defesche JC, Lansberg PJ, Reymer PW, Lamping RJ, Kastelein JJ.
    Neth J Med; 1993 Feb 02; 42(1-2):53-60. PubMed ID: 8446226
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  • 39. 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 02; 9(5):437-44. PubMed ID: 9143924
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  • 40. Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site.
    Kulseth MA, Berge KE, Bogsrud MP, Leren TP.
    J Hum Genet; 2010 Oct 02; 55(10):676-80. PubMed ID: 20703241
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