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1272 related items for PubMed ID: 15497035

  • 1. [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
    [Abstract] [Full Text] [Related]

  • 2. 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 Oct 25; 46(3):152-4. PubMed ID: 11310584
    [Abstract] [Full Text] [Related]

  • 3. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK.
    Dan Med Bull; 2002 Nov 25; 49(4):318-45. PubMed ID: 12553167
    [Abstract] [Full Text] [Related]

  • 4. [Identification of a novel splice mutation of low density lipoprotein receptor gene in a Chinese family with familial hypercholesterolemia].
    Lin J, Wang LY, Liu S, Pan XD, Du LP, Shi FR, Qin YW, Zhao Q, Guo HY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb 25; 21(1):14-8. PubMed ID: 14767901
    [Abstract] [Full Text] [Related]

  • 5. [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; 25(1):55-8. PubMed ID: 18247305
    [Abstract] [Full Text] [Related]

  • 6. 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 25; 18(4):359. PubMed ID: 11668627
    [Abstract] [Full Text] [Related]

  • 7. Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family.
    Xie L, Gong QH, Xie ZG, Liang ZM, Hu ZM, Xia K, Xia JH, Yang YF.
    Chin Med J (Engl); 2007 Oct 05; 120(19):1694-9. PubMed ID: 17935672
    [Abstract] [Full Text] [Related]

  • 8. Functional analysis of low-density lipoprotein receptor in homozygous familial hypercholesterolemia patients with novel 1439 C-->T mutation of low-density lipoprotein receptor gene.
    Lin J, Wang LY, Liu S, Xia JH, Yong Q, Du LP, Pan XD, Xue H, Chen BS, Jiang ZS.
    Chin Med J (Engl); 2008 May 05; 121(9):776-81. PubMed ID: 18701038
    [Abstract] [Full Text] [Related]

  • 9. Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.
    Loux N, Saint-Jore B, Collod G, Dairou F, Benlian P, Truffert J, Dastugue B, Douste-Blazy P, de Gennes JL, Junien C.
    Hum Mutat; 1992 May 05; 1(4):325-32. PubMed ID: 1301940
    [Abstract] [Full Text] [Related]

  • 10. An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia.
    Rabacchi C, Wunsch A, Ghisellini M, Marino M, Pisciotta L, Bertolini S, Calandra S.
    Clin Chim Acta; 2009 Aug 05; 406(1-2):75-80. PubMed ID: 19467224
    [Abstract] [Full Text] [Related]

  • 11. [Analysis of low density lipoprotein receptor function and gene mutation in familial hypercholesterolemic patients].
    Guan X, Li M, Fan L, Chen Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Apr 05; 20(2):138-42. PubMed ID: 12673584
    [Abstract] [Full Text] [Related]

  • 12. Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.
    Cefalù AB, Barraco G, Noto D, Valenti V, Barbagallo CM, Elisir GD, Cuniberti LA, Werba JP, Libra M, Costa S, Gianguzza F, Notarbartolo A, Travali S, Averna MR.
    Int J Mol Med; 2006 Mar 05; 17(3):539-46. PubMed ID: 16465405
    [Abstract] [Full Text] [Related]

  • 13. 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 Mar 05; 9(6):555-62. PubMed ID: 9195230
    [Abstract] [Full Text] [Related]

  • 14. 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 05; 28(1):7-15. PubMed ID: 17694954
    [Abstract] [Full Text] [Related]

  • 15. Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.
    Takada D, Emi M, Ezura Y, Nobe Y, Kawamura K, Iino Y, Katayama Y, Xin Y, Wu LL, Larringa-Shum S, Stephenson SH, Hunt SC, Hopkins PN.
    J Hum Genet; 2002 Jun 05; 47(12):656-64. PubMed ID: 12522687
    [Abstract] [Full Text] [Related]

  • 16. Heterozygosity for the missense mutation Ala370-->Thr in exon 8 of the low density lipoprotein receptor gene does not cause hypercholesterolemia.
    Weiss N, Binder G, Keller C.
    Eur J Med Res; 1998 Feb 21; 3(1-2):20-4. PubMed ID: 9512963
    [Abstract] [Full Text] [Related]

  • 17. A novel LDLR mutation, H190Y, in a Utah kindred with familial hypercholesterolemia.
    Hopkins PN, Wu LL, Stephenson SH, Xin Y, Katsumata H, Nobe Y, Nakajima T, Hirayama T, Emi M, Williams RR.
    J Hum Genet; 1999 Feb 21; 44(6):364-7. PubMed ID: 10570905
    [Abstract] [Full Text] [Related]

  • 18. Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene.
    Soutar AK, McCarthy SN, Seed M, Knight BL.
    J Clin Invest; 1991 Aug 21; 88(2):483-92. PubMed ID: 1830890
    [Abstract] [Full Text] [Related]

  • 19. Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia.
    Jensen HK, Jensen TG, Jensen LG, Hansen PS, Kjeldsen M, Andresen BS, Nielsen V, Meinertz H, Hansen AB, Bolund L.
    Hum Mutat; 1994 Aug 21; 4(2):102-13. PubMed ID: 7981713
    [Abstract] [Full Text] [Related]

  • 20. The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.
    Koivisto UM, Turtola H, Aalto-Setälä K, Top B, Frants RR, Kovanen PT, Syvänen AC, Kontula K.
    J Clin Invest; 1992 Jul 21; 90(1):219-28. PubMed ID: 1634609
    [Abstract] [Full Text] [Related]

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