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Journal Abstract Search

314 related items for PubMed ID: 1634609

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

  • 2. 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; 84(2):499-505. PubMed ID: 2760198
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Deletions of the low density lipoprotein receptor gene underlying familial hypercholesterolaemia: screening by polymerase chain reaction using pooled DNA and blood samples.
    Vuorio AF, Paulin L, Turtola H, Kontula K.
    Mol Cell Probes; 1997 Feb 25; 11(1):65-70. PubMed ID: 9076717
    [Abstract] [Full Text] [Related]

  • 7. 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 25; 17(3):539-46. PubMed ID: 16465405
    [Abstract] [Full Text] [Related]

  • 8. 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 25; 28(1):7-15. PubMed ID: 17694954
    [Abstract] [Full Text] [Related]

  • 9. FH-Sydney 1 and 2: two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation.
    Cavanaugh JA, Easteal S, Simons LA, Thomas DW, Serjeantson SW.
    Hum Mutat; 1994 Jun 25; 4(4):276-80. PubMed ID: 7866407
    [Abstract] [Full Text] [Related]

  • 10. 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 Jun 25; 4(2):102-13. PubMed ID: 7981713
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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]

  • 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 21; 21(1):14-8. PubMed ID: 14767901
    [Abstract] [Full Text] [Related]

  • 14. Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia.
    Jensen HK, Jensen TG, Faergeman O, Jensen LG, Andresen BS, Corydon MJ, Andreasen PH, Hansen PS, Heath F, Bolund L, Gregersen N.
    Hum Mutat; 1997 Feb 21; 9(5):437-44. PubMed ID: 9143924
    [Abstract] [Full Text] [Related]

  • 15. Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA.
    Rødningen OK, Tonstad S, Ose L, Berg K, Leren TP.
    Hum Mutat; 1998 Feb 21; 12(2):95-102. PubMed ID: 9671270
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 05; 88(2):483-92. PubMed ID: 1830890
    [Abstract] [Full Text] [Related]

  • 18. 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 Aug 05; 47(12):656-64. PubMed ID: 12522687
    [Abstract] [Full Text] [Related]

  • 19. Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study.
    Vuorio AF, Turtola H, Piilahti KM, Repo P, Kanninen T, Kontula K.
    Arterioscler Thromb Vasc Biol; 1997 Nov 05; 17(11):3127-38. PubMed ID: 9409302
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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