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Journal Abstract Search

70 related items for PubMed ID: 2038379

  • 1.
    ; . PubMed ID:
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  • 2. Clinical studies in a kindred with a kinetic LDL receptor mutation causing familial hypercholesterolemia.
    Bilheimer DW, East C, Grundy SM, Nora JJ.
    Am J Med Genet; 1985 Nov; 22(3):593-8. PubMed ID: 4061492
    [Abstract] [Full Text] [Related]

  • 3. [Molecular genetic causes of familial hypercholesterolemia].
    Leren TP.
    Tidsskr Nor Laegeforen; 1993 Oct 30; 113(26):3251-4. PubMed ID: 8236220
    [Abstract] [Full Text] [Related]

  • 4. Prospects for gene therapy of familial hypercholesterolemia.
    Wilson JM, Chowdhury JR.
    Mol Biol Med; 1990 Jun 30; 7(3):223-32. PubMed ID: 2215209
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  • 6. [Catabolism of low-density lipoproteins via receptors and its regulation].
    Mazière JC, Mazière C, Gardette J, Polonovski J.
    Ann Biol Clin (Paris); 1986 Jun 30; 44(5):545-50. PubMed ID: 3544977
    [Abstract] [Full Text] [Related]

  • 7. [LDL receptors].
    Ducobu J.
    Rev Med Brux; 1990 Dec 30; 11(10):481-92. PubMed ID: 2293288
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  • 11. [LDL-receptor].
    Yamamoto A.
    Kokyu To Junkan; 1988 Aug 30; 36(8):833-40. PubMed ID: 3227162
    [No Abstract] [Full Text] [Related]

  • 12. [Lipoprotein receptors].
    Yamamoto T.
    Tanpakushitsu Kakusan Koso; 1993 Apr 30; 38(5):821-30. PubMed ID: 8516442
    [No Abstract] [Full Text] [Related]

  • 13. Molecular basis of familial hypercholesterolemia.
    Russell DW, Esser V, Hobbs HH.
    Arteriosclerosis; 1989 Apr 30; 9(1 Suppl):I8-13. PubMed ID: 2643429
    [Abstract] [Full Text] [Related]

  • 14. Association and linkage of LDLR gene variation with variation in plasma low density lipoprotein cholesterol.
    Boright AP, Connelly PW, Brunt JH, Morgan K, Hegele RA.
    J Hum Genet; 1998 Apr 30; 43(3):153-9. PubMed ID: 9747026
    [Abstract] [Full Text] [Related]

  • 15. Low density lipoprotein metabolism and receptor studies in a patient with pseudohomozygous familial hypercholesterolaemia.
    Masana L, Joven J, Rubiés-Prat J, Lewis B.
    Acta Paediatr Scand; 1990 Apr 30; 79(4):475-6. PubMed ID: 2349886
    [No Abstract] [Full Text] [Related]

  • 16. Genetics of the low density lipoprotein receptor: III. Evidence for multiple normal alleles at the low density lipoprotein receptor locus.
    Maartmann-Moe K, Magnus P, Golden W, Berg K.
    Clin Genet; 1981 Aug 30; 20(2):113-29. PubMed ID: 6273031
    [Abstract] [Full Text] [Related]

  • 17. A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation.
    Mavroidis N, Traeger-Synodinos J, Kanavakis E, Drogari E, Matsaniotis N, Humphries SE, Day IN, Kattamis C.
    Hum Mutat; 1997 Aug 30; 9(3):274-6. PubMed ID: 9090532
    [No Abstract] [Full Text] [Related]

  • 18. [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]

  • 19. Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
    Kuhrová V, Francová H, Zapletalová P, Freiberger T, Fajkusová L, Hrabincová E, Slováková R, Kozák L.
    Hum Mutat; 2001 Sep 25; 18(3):253. PubMed ID: 11524740
    [Abstract] [Full Text] [Related]

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

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