These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

180 related items for PubMed ID: 9512963

  • 1. 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]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK.
    Dan Med Bull; 2002 Nov 21; 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. 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 Oct 25; 4(2):102-13. PubMed ID: 7981713
    [Abstract] [Full Text] [Related]

  • 6. Homozygous DNA variants in exon 9 of the LDL receptor gene in a Thai patient with primary hypercholesterolemia phenotype.
    Pongrapeeporn K, Yamwong P, Nuchpramool W, Sribhen K, Thepsuriyanon P, Leowattana W, Ong-Ajyooth S.
    J Med Assoc Thai; 2001 Dec 25; 84 Suppl 3():S690-5. PubMed ID: 12002911
    [Abstract] [Full Text] [Related]

  • 7. Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.
    Real JT, Chaves FJ, Ejarque I, García-García AB, Valldecabres C, Ascaso JF, Armengod ME, Carmena R.
    Eur J Hum Genet; 2003 Dec 25; 11(12):959-65. PubMed ID: 14508510
    [Abstract] [Full Text] [Related]

  • 8. Mutation analysis of exon 9 of the LDL receptor gene in Thai subjects with primary hypercholesterolemia.
    Yamwong P, Pongrapeeporn KU, Thepsuriyanont P, Amornrattana A, Somkasettrin A, Sribhen K.
    J Med Assoc Thai; 2000 Nov 25; 83 Suppl 2():S81-8. PubMed ID: 11194027
    [Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. 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 Nov 25; 9(6):555-62. PubMed ID: 9195230
    [Abstract] [Full Text] [Related]

  • 14. 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 25; 90(1):219-28. PubMed ID: 1634609
    [Abstract] [Full Text] [Related]

  • 15. Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.
    Salazar LA, Hirata MH, Cavalli SA, Nakandakare ER, Forti N, Diament J, Giannini SD, Bertolami MC, Hirata RD.
    Hum Mutat; 2002 Apr 25; 19(4):462-3. PubMed ID: 11933210
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. [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 25; 21(1):14-8. PubMed ID: 14767901
    [Abstract] [Full Text] [Related]

  • 19. Two novel mutations 685del 1 and D129G in the low-density lipoprotein receptor gene in a compound heterozygote Chinese family with familial hypercholesterolemia.
    Chen K, Mu YM, Wang BA, Guo QH, Lu ZH, Dou JT, Lu JM.
    Metabolism; 2007 May 25; 56(5):636-40. PubMed ID: 17445538
    [Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.