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Journal Abstract Search

209 related items for PubMed ID: 30166352

  • 1. Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.
    Lv T, Zhang W, Xu A, Li Y, Zhou D, Zhang B, Li X, Zhao X, Wang Y, Wang X, Duan W, Wang Q, Xu H, Zheng J, Zhao R, Zhu L, Dong Y, Lu L, Chen Y, Long J, Zheng S, Wang W, You H, Jia J, Ou X, Huang J.
    J Med Genet; 2018 Oct; 55(10):650-660. PubMed ID: 30166352
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  • 2. Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
    Santos PC, Cançado RD, Pereira AC, Schettert IT, Soares RA, Pagliusi RA, Hirata RD, Hirata MH, Teixeira AC, Figueiredo MS, Chiattone CS, Krieger JE, Guerra-Shinohara EM.
    Blood Cells Mol Dis; 2011 Apr 15; 46(4):302-7. PubMed ID: 21411349
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  • 3. Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.
    Wu L, Zhang W, Li Y, Zhou D, Zhang B, Xu A, Wu Z, Wu L, Li S, Wang X, Zhao X, Wang Q, Li M, Wang Y, You H, Huang J, Ou X, Jia J.
    Orphanet J Rare Dis; 2021 Sep 28; 16(1):398. PubMed ID: 34583728
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  • 4. Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.
    Zhang W, Li Y, Xu A, Ouyang Q, Wu L, Zhou D, Wu L, Zhang B, Zhao X, Wang Y, Wang X, Duan W, Wang Q, You H, Huang J, Ou X, Jia J, China Registry of Genetic/Metabolic Liver Diseases (CR-GMLD) Group.
    Orphanet J Rare Dis; 2022 Jun 06; 17(1):216. PubMed ID: 35668470
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  • 5. Adult onset hereditary hemochromatosis is associated with a novel recurrent Hemojuvelin (HJV) gene mutation in north Indians.
    Dhillon BK, Chopra G, Jamwal M, Chandak GR, Duseja A, Malhotra P, Chawla YK, Garewal G, Das R.
    Blood Cells Mol Dis; 2018 Nov 06; 73():14-21. PubMed ID: 30195625
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  • 7. Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload.
    de Lima Santos PC, Pereira AC, Cançado RD, Schettert IT, Hirata RD, Hirata MH, Figueiredo MS, Chiattone CS, Krieger JE, Guerra-Shinohara EM.
    Genet Test Mol Biomarkers; 2010 Dec 06; 14(6):803-6. PubMed ID: 21039223
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  • 12. [Mutation analysis of the pathogenic gene in a Chinese family with hereditary hemochromatosis].
    Yuanfeng L, Hongxing Z, Haitao Z, Xiaobo P, Lili B, Fuchu H, Zewu Q, Gangqiao Z.
    Yi Chuan; 2014 Nov 06; 36(11):1152-8. PubMed ID: 25567873
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  • 14. New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
    Hernández G, Ferrer-Cortès X, Venturi V, Musri M, Pilquil MF, Torres PMM, Rodríguez IH, Mínguez MÀR, Kelleher NJ, Pelucchi S, Piperno A, Alberca EP, Ricós GG, Giró EC, Pérez-Montero S, Tornador C, Villà-Freixa J, Sánchez M.
    Genes (Basel); 2021 Dec 13; 12(12):. PubMed ID: 34946929
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  • 16. Iron overload and prolonged ingestion of iron supplements: clinical features and mutation analysis of hemochromatosis-associated genes in four cases.
    Barton JC, Lee PL, West C, Bottomley SS.
    Am J Hematol; 2006 Oct 13; 81(10):760-7. PubMed ID: 16838333
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  • 20. Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.
    Hamdi-Rozé H, Beaumont-Epinette MP, Ben Ali Z, Le Lan C, Loustaud-Ratti V, Causse X, Loreal O, Deugnier Y, Brissot P, Jouanolle AM, Bardou-Jacquet E.
    Am J Hematol; 2016 Dec 13; 91(12):1202-1205. PubMed ID: 27518069
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