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Journal Abstract Search

196 related items for PubMed ID: 8831933

  • 1. Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote.
    Langenhoven E, Warnich L, Thiart R, Rubinsztein DC, van der Westhuyzen DR, Marais AD, Kotze MJ.
    Atherosclerosis; 1996 Aug 23; 125(1):111-9. PubMed ID: 8831933
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  • 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 Aug 23; 46(3):152-4. PubMed ID: 11310584
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  • 3. [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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  • 4. [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 25; 41(10):667-70. PubMed ID: 12485531
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  • 5. Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin.
    Rubinsztein DC, Jialal I, Leitersdorf E, Coetzee GA, van der Westhuyzen DR.
    Biochim Biophys Acta; 1993 Aug 04; 1182(1):75-82. PubMed ID: 8347689
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  • 6. 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 Aug 04; 1(4):325-32. PubMed ID: 1301940
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  • 7. 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 04; 12(3):149-52. PubMed ID: 9664576
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  • 8. Identification of two LDL receptor mutations causing familial hypercholesterolemia in Indian subjects.
    Ashavaid TF, Kondkar AA, Nair KG.
    J Clin Lab Anal; 2000 Jun 04; 14(6):293-8. PubMed ID: 11138612
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  • 11. New type of the internalization-defective low-density lipoprotein receptor owing to two-nucleotide deletion (2199delCA or 2201delCA) in Japanese patients with familial hypercholesterolaemia.
    Tashiro J, Endo M, Bujo H, Shinomiya M, Morisaki N, Saito Y.
    Eur J Clin Invest; 1998 Sep 04; 28(9):712-9. PubMed ID: 9767370
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  • 15. Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK.
    King-Underwood L, Gudnason V, Humphries S, Seed M, Patel D, Knight B, Soutar A.
    Clin Genet; 1991 Jul 04; 40(1):17-28. PubMed ID: 1884514
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  • 16. Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia.
    Schuster H, Fischer HJ, Keller C, Wolfram G, Zöllner N.
    Hum Genet; 1993 Apr 04; 91(3):287-9. PubMed ID: 8478013
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  • 17. Familial hypercholesterolemia in Utah kindred with novel R103W mutations in exon 4 of the LDL receptor gene.
    Katsumata H, Emi M, Nobe Y, Nakajima T, Hirayama T, Wu LL, Stephenson SH, Hopkins PN, Williams RR.
    Jpn Heart J; 1999 Jul 04; 40(4):443-9. PubMed ID: 10611909
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  • 18. Familial hypercholesterolemia in Utah kindred with novel 2412-6 Ins G mutations in exon 17 of the LDL receptor gene.
    Nobe Y, Emi M, Katsumata H, Nakajima T, Hirayama T, Wu LL, Stephenson SH, Hopkins PN, Williams RR.
    Jpn Heart J; 1999 Jul 04; 40(4):435-41. PubMed ID: 10611908
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  • 19. Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.
    Lee WK, Haddad L, Macleod MJ, Dorrance AM, Wilson DJ, Gaffney D, Dominiczak MH, Packard CJ, Day IN, Humphries SE, Dominiczak AF.
    J Med Genet; 1998 Jul 04; 35(7):573-8. PubMed ID: 9678702
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  • 20. CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians.
    Kotze MJ, Loubser O, Thiart R, de Villiers JN, Langenhoven E, Theart L, Steyn K, Marais AD, Raal FJ.
    Clin Genet; 1997 Jun 04; 51(6):394-8. PubMed ID: 9237502
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