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Journal Abstract Search

114 related items for PubMed ID: 11194027

  • 1.
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  • 2. Screening for mutations in exon 4 of the LDL receptor gene in Thai subjects with primary hypercholesterolemia: detection of a novel mutation D151Y by PCR-CFLP.
    Pongrapeeporn KU, Sutthikhum V, Likidlilid A, Poldee S, Futrakul A, Yamwong P, Amornrattana A, Ong-Ajyooth S.
    J Med Assoc Thai; 2000 Nov; 83 Suppl 2():S66-73. PubMed ID: 11194025
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  • 5. 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 Nov; 46(3):152-4. PubMed ID: 11310584
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  • 7. Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family.
    Thiart R, Loubser O, de Villiers JN, Santos M, Kotze MJ.
    Mol Cell Probes; 1997 Dec; 11(6):457-8. PubMed ID: 9500809
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  • 9. [Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].
    Liu YR, Tao QM, Chen JZ, Tao M, Guo XG, Shang YP, Zhu JH, Zhang FR, Zheng LR, Wang XX.
    Sheng Li Xue Bao; 2004 Oct 25; 56(5):566-72. PubMed ID: 15497035
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  • 10. Two novel D151Y and M391T LDLR mutations causing LDLR transport defects in Thai patients with familial hypercholesterolemia.
    Jeenduang N, Ruangpracha A, Promptmas C, Pongrapeeporn KU, Porntadavity S.
    Clin Chim Acta; 2010 Nov 11; 411(21-22):1656-61. PubMed ID: 20599862
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  • 11. Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.
    Cenarro A, Jensen HK, Casao E, Civeira F, González-Bonillo J, Rodríguez-Rey JC, Gregersen N, Pocoví M.
    Hum Mutat; 1998 Nov 11; 11(5):413. PubMed ID: 10206683
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  • 12. Detection of a known mutation M412T in the LDL receptor in a Chinese Thai FH family.
    Pongrapeeporn KU, Nuinoon M, Thepsuriyanont P, Kasemsuk B, Charoensuk P, Chantawee R, Wongmanee U, Nuchpramool W.
    Clin Chim Acta; 2006 Mar 11; 365(1-2):211-6. PubMed ID: 16406299
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  • 13. [Four new mutations and polymorphic variants of the low density lipoprotein receptor in patients with familial hypercholesterolemia in Saint Petersburg].
    Tatishcheva IuA, Mandel'shtam MIu, Golubkov VI, Lipovetskiĭ BM, Gaĭtskhoki VS.
    Genetika; 2001 Sep 11; 37(9):1290-5. PubMed ID: 11642133
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  • 14. 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 11; 34 Suppl 3():14-5. PubMed ID: 8767447
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  • 15. 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 Jun 11; 9(5):437-44. PubMed ID: 9143924
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  • 16. [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 11; 25(1):55-8. PubMed ID: 18247305
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  • 17. 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 11; 12(3):149-52. PubMed ID: 9664576
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  • 18. 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 11; 19(4):462-3. PubMed ID: 11933210
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  • 19. Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
    Wang J, Huff E, Janecka L, Hegele RA.
    Hum Mutat; 2001 Oct 11; 18(4):359. PubMed ID: 11668627
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  • 20. 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 11; 28(1):7-15. PubMed ID: 17694954
    [Abstract] [Full Text] [Related]

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