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Journal Abstract Search

215 related items for PubMed ID: 7573037

  • 1. Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.
    Koivisto UM, Viikari JS, Kontula K.
    Am J Hum Genet; 1995 Oct; 57(4):789-97. PubMed ID: 7573037
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  • 3. 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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  • 4. 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; 90(1):219-28. PubMed ID: 1634609
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  • 5. 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; 244(1):19-25. PubMed ID: 9698020
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  • 7. Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH).
    Langlois S, Kastelein JJ, Hayden MR.
    Am J Hum Genet; 1988 Jul; 43(1):60-8. PubMed ID: 2837085
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  • 8. Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
    Zakharova FM, Damgaard D, Mandelshtam MY, Golubkov VI, Nissen PH, Nilsen GG, Stenderup A, Lipovetsky BM, Konstantinov VO, Denisenko AD, Vasilyev VB, Faergeman O.
    BMC Med Genet; 2005 Feb 08; 6():6. PubMed ID: 15701167
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  • 9. Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
    Chae JJ, Kim SH, Kim UK, Han KH, Kim HS, Kastner DL, Namkoong Y, Park YB, Lee CC.
    Clin Genet; 1999 May 08; 55(5):325-31. PubMed ID: 10422802
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  • 10. [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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  • 11. 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 Oct 25; 1(4):325-32. PubMed ID: 1301940
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  • 12. A novel mutation in Exon 4 of the low density lipoprotein receptor gene resulting in heterozygous familial hypercholesterolemia associated with decreased ligand binding.
    Morash BA, Tan MH, Nassar BA, Too CK, Guernsey DL.
    Atherosclerosis; 1998 Jan 25; 136(1):9-16. PubMed ID: 9544726
    [Abstract] [Full Text] [Related]

  • 13. Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.
    Maruyama T, Miyake Y, Tajima S, Harada-Shiba M, Yamamura T, Tsushima M, Kishino B, Horiguchi Y, Funahashi T, Matsuzawa Y.
    Arterioscler Thromb Vasc Biol; 1995 Oct 25; 15(10):1713-8. PubMed ID: 7583548
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  • 14. Identification of four novel mutations of the low-density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia.
    Shin JA, Kim SH, Kim UK, Chae JJ, Choe SJ, Namkoong Y, Kim HS, Park YB, Lee CC.
    Clin Genet; 2000 Mar 25; 57(3):225-9. PubMed ID: 10782930
    [Abstract] [Full Text] [Related]

  • 15. 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 Mar 25; 8(4):326-32. PubMed ID: 8956037
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  • 16. Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.
    Lombardi MP, Redeker EJ, Defesche JC, Kamerling SW, Trip MD, Mannens MM, Havekes LM, Kastelein JJ.
    Clin Genet; 2000 Feb 25; 57(2):116-24. PubMed ID: 10735632
    [Abstract] [Full Text] [Related]

  • 17. 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 25; 4(2):102-13. PubMed ID: 7981713
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  • 18. 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 25; 40(4):443-9. PubMed ID: 10611909
    [Abstract] [Full Text] [Related]

  • 19. Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.
    Al-Allaf FA, Alashwal A, Abduljaleel Z, Taher MM, Bouazzaoui A, Abalkhail H, Al-Allaf AF, Athar M.
    Acta Biochim Pol; 2017 Jul 25; 64(1):75-79. PubMed ID: 27878139
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  • 20. Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom.
    Webb JC, Sun XM, McCarthy SN, Neuwirth C, Thompson GR, Knight BL, Soutar AK.
    J Lipid Res; 1996 Feb 25; 37(2):368-81. PubMed ID: 9026534
    [Abstract] [Full Text] [Related]

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