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Journal Abstract Search

590 related items for PubMed ID: 30270081

  • 21. Molecular insights into the coding region mutations of low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia.
    Shaik NA, Al-Qahtani F, Nasser K, Jamil K, Alrayes NM, Elango R, Awan ZA, Banaganapalli B.
    J Gene Med; 2020 Jun; 22(6):e3176. PubMed ID: 32073192
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  • 23. [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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  • 24. 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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  • 26. Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
    Pek SLT, Dissanayake S, Fong JCW, Lin MX, Chan EZL, Tang JI, Lee CW, Ong HY, Sum CF, Lim SC, Tavintharan S.
    Atherosclerosis; 2018 Feb 25; 269():106-116. PubMed ID: 29353225
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  • 27. Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica.
    Alves AC, Alonso R, Diaz-Diaz JL, Medeiros AM, Jannes CE, Merchan A, Vasques-Cardenas NA, Cuevas A, Chacra AP, Krieger JE, Arroyo R, Arrieta F, Schreier L, Corral P, Bañares VG, Araujo MB, Bustos P, Asenjo S, Stoll M, Dell'Oca N, Reyes M, Ressia A, Campo R, Magaña-Torres MT, Metha R, Aguilar-Salinas CA, Ceballos-Macias JJ, Morales ÁJR, Mata P, Bourbon M, Santos RD.
    Arterioscler Thromb Vasc Biol; 2020 Oct 25; 40(10):2508-2515. PubMed ID: 32757650
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  • 28. A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.
    Reeskamp LF, Hartgers ML, Peter J, Dallinga-Thie GM, Zuurbier L, Defesche JC, Grefhorst A, Hovingh GK.
    Circ Genom Precis Med; 2018 Dec 25; 11(12):e002385. PubMed ID: 30562117
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  • 31. Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review.
    Groselj U, Kovac J, Sustar U, Mlinaric M, Fras Z, Podkrajsek KT, Battelino T.
    Atherosclerosis; 2018 Oct 25; 277():383-391. PubMed ID: 30270075
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  • 33. DIAgnosis and Management Of familial hypercholesterolemia in a Nationwide Design (DIAMOND-FH): Prevalence in Switzerland, clinical characteristics and the diagnostic value of clinical scores.
    Miserez AR, Martin FJ, Spirk D.
    Atherosclerosis; 2018 Oct 25; 277():282-288. PubMed ID: 30270060
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  • 36. Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.
    Grenkowitz T, Kassner U, Wühle-Demuth M, Salewsky B, Rosada A, Zemojtel T, Hopfenmüller W, Isermann B, Borucki K, Heigl F, Laufs U, Wagner S, Kleber ME, Binner P, März W, Steinhagen-Thiessen E, Demuth I.
    Atherosclerosis; 2016 Oct 25; 253():88-93. PubMed ID: 27596133
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  • 39. Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.
    Rutkowska L, Sałacińska K, Salachna D, Matusik P, Pinkier I, Kępczyński Ł, Piotrowicz M, Starostecka E, Lewiński A, Gach A.
    Genes (Basel); 2022 Jun 01; 13(6):. PubMed ID: 35741760
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