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Journal Abstract Search

328 related items for PubMed ID: 23510778

  • 1. A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia.
    Soufi M, Rust S, Walter M, Schaefer JR.
    Gene; 2013 May 25; 521(1):200-3. PubMed ID: 23510778
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  • 3. [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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  • 4. Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.
    Alnouri F, Athar M, Al-Allaf FA, Abduljaleel Z, Taher MM, Bouazzaoui A, Al Ammari D, Karrar H, Albabtain M.
    Atherosclerosis; 2018 Oct 25; 277():425-433. PubMed ID: 30270081
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  • 5. A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.
    Tada H, Kawashiri MA, Ohtani R, Noguchi T, Nakanishi C, Konno T, Hayashi K, Nohara A, Inazu A, Kobayashi J, Mabuchi H, Yamagishi M.
    Atherosclerosis; 2011 Dec 25; 219(2):663-6. PubMed ID: 21872251
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  • 6. Genetics and kinetics of familial hypercholesterolemia, with the special focus on FH-(Marburg) p.W556R.
    Soufi M, Kurt B, Schweer H, Sattler AM, Klaus G, Zschocke J, Schaefer JR.
    Atheroscler Suppl; 2009 Dec 29; 10(5):5-11. PubMed ID: 20129366
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  • 8. [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 29; 21(1):14-8. PubMed ID: 14767901
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  • 11. LDL-receptor mutations in Europe.
    Dedoussis GV, Schmidt H, Genschel J.
    Hum Mutat; 2004 Dec 29; 24(6):443-59. PubMed ID: 15523646
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  • 12. Disruption of autosomal recessive hypercholesterolemia gene shows different phenotype in vitro and in vivo.
    Harada-Shiba M, Takagi A, Marutsuka K, Moriguchi S, Yagyu H, Ishibashi S, Asada Y, Yokoyama S.
    Circ Res; 2004 Oct 29; 95(9):945-52. PubMed ID: 15472122
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  • 14. Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia.
    Jones C, Garuti R, Michaely P, Li WP, Maeda N, Cohen JC, Herz J, Hobbs HH.
    J Clin Invest; 2007 Jan 29; 117(1):165-74. PubMed ID: 17200716
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  • 17. Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.
    Lee C, Cui Y, Song J, Li S, Zhang F, Wu M, Li L, Hu D, Chen H.
    Lipids Health Dis; 2019 Apr 11; 18(1):95. PubMed ID: 30971288
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