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Journal Abstract Search

444 related items for PubMed ID: 9412789

  • 1. A xanthomatosis-susceptibility gene may exist in a Syrian family with familial hypercholesterolemia.
    Vergopoulos A, Bajari T, Jouma M, Knoblauch H, Aydin A, Bähring S, Mueller-Myhsok B, Dresel A, Joubran R, Luft FC, Schuster H.
    Eur J Hum Genet; 1997; 5(5):315-23. PubMed ID: 9412789
    [Abstract] [Full Text] [Related]

  • 2. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK.
    Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
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  • 3. 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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  • 4. [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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  • 6. 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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  • 8. 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 Oct 16; 44(6):364-7. PubMed ID: 10570905
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  • 10. [Homozygous familial hypercholesterolemia: development and a case illustration].
    Choukri M, Laaroussi N, Taheri H, Chabraoui L.
    Ann Biol Clin (Paris); 2013 Oct 16; 71(1):99-103. PubMed ID: 23396432
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  • 12. 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]

  • 13. [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 05; 21(1):14-8. PubMed ID: 14767901
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  • 14. 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 Feb 05; 4(2):102-13. PubMed ID: 7981713
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  • 15. A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease.
    Castillo S, Reyes G, Tejedor D, Mozas P, Suarez Y, Lasuncion MA, Cenarro A, Civeira F, Alonso R, Mata P, Pocovi M, Spanish Group of FH.
    Hum Mutat; 2002 Dec 05; 20(6):477. PubMed ID: 12442279
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  • 17. 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
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  • 19. Family study in familial hypercholesterolemia with a receptor-negative homozygous 9-year-old boy.
    Clemens P, Beisiegel U, Steinhagen-Thiessen E.
    Helv Paediatr Acta; 1986 Aug 05; 41(3):173-82. PubMed ID: 2944857
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  • 20. 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
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