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

211 related items for PubMed ID: 11642133

  • 1. [Four new mutations and polymorphic variants of the low density lipoprotein receptor in patients with familial hypercholesterolemia in Saint Petersburg].
    Tatishcheva IuA, Mandel'shtam MIu, Golubkov VI, Lipovetskiĭ BM, Gaĭtskhoki VS.
    Genetika; 2001 Sep; 37(9):1290-5. PubMed ID: 11642133
    [Abstract] [Full Text] [Related]

  • 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 Sep; 46(3):152-4. PubMed ID: 11310584
    [Abstract] [Full Text] [Related]

  • 3. Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.
    Cenarro A, Jensen HK, Casao E, Civeira F, González-Bonillo J, Rodríguez-Rey JC, Gregersen N, Pocoví M.
    Hum Mutat; 1998 Sep; 11(5):413. PubMed ID: 10206683
    [Abstract] [Full Text] [Related]

  • 4. 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; 28(1):7-15. PubMed ID: 17694954
    [Abstract] [Full Text] [Related]

  • 5. [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]

  • 6. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK.
    Dan Med Bull; 2002 Nov 25; 49(4):318-45. PubMed ID: 12553167
    [Abstract] [Full Text] [Related]

  • 7. 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 Nov 25; 1(4):325-32. PubMed ID: 1301940
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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 25; 12(3):149-52. PubMed ID: 9664576
    [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.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene.
    Mozas P, Cenarro A, Civeira F, Castillo S, Ros E, Pocovi M.
    Hum Mutat; 2000 May 25; 15(5):483-4. PubMed ID: 10790219
    [Abstract] [Full Text] [Related]

  • 15. [A multiexon deletion in the human low density lipoprotein receptor gene as a reason for familial hypercholesterolemia].
    Mandel'shtam MIu, Lipovetskiĭ BM, Shvartsman AL, Gaĭtskhoki VS.
    Genetika; 1995 Feb 25; 31(2):259-63. PubMed ID: 7721067
    [Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. Use of the single strand conformation polymorphism method for rapid screening for mutations in the low density lipoprotein receptor gene in patients with familial hypercholesterolemia: effect on plasma lipid levels of different classes of mutations.
    Gudnason V, Day IN, Humphries SE.
    Z Gastroenterol; 1996 Jun 25; 34 Suppl 3():6-8. PubMed ID: 8767444
    [Abstract] [Full Text] [Related]

  • 18. Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online.
    Hattori H, Nagano M, Iwata F, Homma Y, Egashira T, Okada T.
    Hum Mutat; 1999 Jun 25; 14(1):87. PubMed ID: 10447263
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. 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]

    Page: [Next] [New Search]
    of 11.