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Journal Abstract Search

234 related items for PubMed ID: 9767370

  • 1. 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; 28(9):712-9. PubMed ID: 9767370
    [Abstract] [Full Text] [Related]

  • 2. Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia).
    Garuti R, Lelli N, Barozzini M, Tiozzo R, Ghisellini M, Simone ML, Li Volti S, Garozzo R, Mollica F, Vergoni W, Bertolini S, Calandra S.
    Atherosclerosis; 1996 Mar; 121(1):105-17. PubMed ID: 8678915
    [Abstract] [Full Text] [Related]

  • 3. Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia.
    Hobbs HH, Brown MS, Goldstein JL, Russell DW.
    J Biol Chem; 1986 Oct 05; 261(28):13114-20. PubMed ID: 3020025
    [Abstract] [Full Text] [Related]

  • 4. A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia.
    Koivisto UM, Kontula K.
    Hum Mutat; 1996 Oct 05; 8(4):326-32. PubMed ID: 8956037
    [Abstract] [Full Text] [Related]

  • 5. Phenotypic consequences of a deletion of exons 2 and 3 of the LDL receptor gene.
    Rødningen OK, Tonstad S, Medh JD, Chappell DA, Ose L, Leren TP.
    J Lipid Res; 1999 Feb 05; 40(2):213-20. PubMed ID: 9925649
    [Abstract] [Full Text] [Related]

  • 6. Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia.
    Leitersdorf E, Hobbs HH, Fourie AM, Jacobs M, van der Westhuyzen DR, Coetzee GA.
    Proc Natl Acad Sci U S A; 1988 Nov 05; 85(21):7912-6. PubMed ID: 3263645
    [Abstract] [Full Text] [Related]

  • 7. Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group.
    Sun XM, Patel DD, Knight BL, Soutar AK.
    Arterioscler Thromb Vasc Biol; 1997 Nov 05; 17(11):3092-101. PubMed ID: 9409298
    [Abstract] [Full Text] [Related]

  • 8. Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype.
    Aalto-Setälä K, Helve E, Kovanen PT, Kontula K.
    J Clin Invest; 1989 Aug 05; 84(2):499-505. PubMed ID: 2760198
    [Abstract] [Full Text] [Related]

  • 9. [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 05; 41(10):667-70. PubMed ID: 12485531
    [Abstract] [Full Text] [Related]

  • 10. Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing familial hypercholesterolemia (FH-Salerno).
    Bertolini S, Patel DD, Coviello DA, Lelli N, Ghisellini M, Tiozzo R, Masturzo P, Elicio N, Knight BL, Calandra S.
    J Lipid Res; 1994 Aug 05; 35(8):1422-30. PubMed ID: 7989866
    [Abstract] [Full Text] [Related]

  • 11. Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia.
    Miyake Y, Tajima S, Funahashi T, Yamamoto A.
    J Biol Chem; 1989 Oct 05; 264(28):16584-90. PubMed ID: 2777800
    [Abstract] [Full Text] [Related]

  • 12. Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).
    Lelli N, Garuti R, Ghisellini M, Tiozzo R, Rolleri M, Aimale V, Ginocchio E, Naselli A, Bertolini S, Calandra S.
    J Lipid Res; 1995 Jun 05; 36(6):1315-24. PubMed ID: 7545204
    [Abstract] [Full Text] [Related]

  • 13. Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolaemia.
    Lind S, Eriksson M, Rystedt E, Wiklund O, Angelin B, Eggertsen G.
    J Intern Med; 1998 Jul 05; 244(1):19-25. PubMed ID: 9698020
    [Abstract] [Full Text] [Related]

  • 14. Deletion of two growth-factor repeats from the low-density-lipoprotein receptor accelerates its degradation.
    van der Westhuyzen DR, Stein ML, Henderson HE, Marais AD, Fourie AM, Coetzee GA.
    Biochem J; 1991 Aug 01; 277 ( Pt 3)(Pt 3):677-82. PubMed ID: 1872803
    [Abstract] [Full Text] [Related]

  • 15. Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene.
    Solberg K, Rødningen OK, Tonstad S, Ose L, Leren TP.
    Scand J Clin Lab Invest; 1994 Dec 01; 54(8):605-9. PubMed ID: 7709162
    [Abstract] [Full Text] [Related]

  • 16. 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 Dec 01; 9(6):555-62. PubMed ID: 9195230
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Association of an exon 3 mutation (Trp66-->Gly) of the LDL receptor with variable expression of familial hypercholesterolemia in a French Canadian family.
    Levy E, Minnich A, Cacan SL, Thibault L, Giroux LM, Davignon J, Lambert M.
    Biochem Mol Med; 1997 Feb 23; 60(1):59-69. PubMed ID: 9066982
    [Abstract] [Full Text] [Related]

  • 19. Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].
    Yu L, Heere-Ress E, Boucher B, Defesche JC, Kastelein J, Lavoie MA, Genest J.
    Atherosclerosis; 1999 Sep 23; 146(1):125-31. PubMed ID: 10487495
    [Abstract] [Full Text] [Related]

  • 20. An acceptor splice site mutation in intron 16 of the low density lipoprotein receptor gene leads to an elongated, internalization defective receptor.
    Lombardi P, Hoffer MJ, Top B, de Wit E, Gevers Leuven JA, Frants RR, Havekes LM.
    Atherosclerosis; 1993 Dec 23; 104(1-2):117-28. PubMed ID: 8141835
    [Abstract] [Full Text] [Related]

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