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102 related items for PubMed ID: 16502360

  • 1. Monogenic hypercholesterolaemias--an evaluation of apolipoprotein B100 and LDL receptor gene polymorphisms.
    Plewa R, Łuczak M, Burchardt P, Bolewski A, Wierzchowiecki J, Siminiak T.
    Kardiol Pol; 2006 Feb; 64(2):127-33; discussion 134. PubMed ID: 16502360
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  • 2. Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).
    Azian M, Hapizah MN, Khalid BA, Khalid Y, Rosli A, Jamal R.
    Malays J Pathol; 2006 Jun; 28(1):7-15. PubMed ID: 17694954
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  • 3. [Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family].
    Cheng XH, Zheng F, Zhou X, Xiong CL, Ding J, Chen YM.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb; 25(1):55-8. PubMed ID: 18247305
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  • 4. 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; 11(12):959-65. PubMed ID: 14508510
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  • 5. Screening for mutations in the LDL receptor gene and apolipoprotein B-100 gene in 218 patients with severe hypercholesterolemia.
    Geisel J, Holzem G, Schleifenbaum T, Oette K.
    Z Gastroenterol; 1996 Jun; 34 Suppl 3():14-5. PubMed ID: 8767447
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  • 8. Apolipoprotein B gene polymorphisms in people in the east Mediterranean area of Turkey.
    Tamer L, Tanriverdi K, Ercan B, Unlu A, Sucu N, Pekdemir H, Atik U.
    East Mediterr Health J; 2004 Jun; 10(1-2):125-30. PubMed ID: 16201717
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  • 9. Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.
    Civeira F, Jarauta E, Cenarro A, García-Otín AL, Tejedor D, Zambón D, Mallen M, Ros E, Pocoví M.
    J Am Coll Cardiol; 2008 Nov 04; 52(19):1546-53. PubMed ID: 19007590
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  • 10. Update of the molecular basis of familial hypercholesterolemia in The Netherlands.
    Fouchier SW, Kastelein JJ, Defesche JC.
    Hum Mutat; 2005 Dec 04; 26(6):550-6. PubMed ID: 16250003
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  • 12. [Familial hypercholesterolemia in Russia: genetic and phenotypic characteristics].
    Meshkov AN, Malyshev PP, Kukharchuk VV.
    Ter Arkh; 2009 Dec 04; 81(9):23-8. PubMed ID: 19827648
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  • 13. Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.
    Salazar LA, Hirata MH, Cavalli SA, Nakandakare ER, Forti N, Diament J, Giannini SD, Bertolami MC, Hirata RD.
    Hum Mutat; 2002 Apr 04; 19(4):462-3. PubMed ID: 11933210
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  • 16. High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations.
    Liyanage KE, Hooper AJ, Defesche JC, Burnett JR, van Bockxmeer FM.
    Ann Clin Biochem; 2008 Mar 04; 45(Pt 2):170-6. PubMed ID: 18325181
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  • 17. Detection of the apolipoprotein B-100 arg(3500) > gl mutation in familial defective apoB-100 by temperature-gradient gel electrophoresis.
    Koch M, Pfohl M, Enderle M, Schnauder G, Seif FJ.
    Z Gastroenterol; 1996 Jun 04; 34 Suppl 3():16-8. PubMed ID: 8767448
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  • 19. Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.
    Bednarska-Makaruk M, Bisko M, Pulawska MF, Hoffman-Zacharska D, Rodo M, Roszczynko M, Solik-Tomassi A, Broda G, Polakowska M, Pytlak A, Wehr H.
    Eur J Hum Genet; 2001 Nov 04; 9(11):836-42. PubMed ID: 11781700
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  • 20. Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population.
    Rabès JP, Varret M, Saint-Jore B, Erlich D, Jondeau G, Krempf M, Giraudet P, Junien C, Boileau C.
    Hum Mutat; 1997 Nov 04; 10(2):160-3. PubMed ID: 9259199
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