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Journal Abstract Search

234 related items for PubMed ID: 9002528

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  • 2. A double mutation in AGXT gene in families with primary hyperoxaluria type 1.
    Kanoun H, Jarraya F, Hadj Salem I, Mahfoudh H, Chaabouni Y, Makni F, Hachicha J, Fakhfakh F.
    Gene; 2013 Dec 01; 531(2):451-6. PubMed ID: 24012869
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  • 3. A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation.
    M'Dimegh S, Aquaviva-Bourdain C, Omezzine A, M'Barek I, Souche G, Zellama D, Abidi K, Achour A, Gargah T, Abroug S, Bouslama A.
    J Genet; 2016 Sep 01; 95(3):659-66. PubMed ID: 27659337
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  • 9. Polymorphisms in the alanine:glyoxylate aminotransferase gene and their application to the prenatal diagnosis of primary hyperoxaluria type 1.
    Rumsby G, Mandel H, Avey C, Geraerts A.
    Nephrol Dial Transplant; 1995 Sep 01; 10 Suppl 8():30-2. PubMed ID: 8592623
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  • 11. Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.
    Isiyel E, Ezgu SA, Caliskan S, Akman S, Akil I, Tabel Y, Akinci N, Ozdogan EB, Ozel A, Eroglu FK, Ezgu FS.
    Mol Genet Metab; 2016 Dec 01; 119(4):311-316. PubMed ID: 27915025
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  • 14. Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2.
    Tammachote R, Kingsuwannapong N, Tongkobpetch S, Srichomthong C, Yeetong P, Kingwatanakul P, Monico CG, Suphapeetiporn K, Shotelersuk V.
    Am J Med Genet A; 2012 Sep 01; 158A(9):2124-30. PubMed ID: 22821680
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  • 15. A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population.
    Li X, Gu J, Yang Y, Li J, Li Y.
    Tohoku J Exp Med; 2018 Dec 01; 246(4):233-241. PubMed ID: 30541997
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  • 16. Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
    Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G.
    Hum Mutat; 2009 Jun 01; 30(6):910-7. PubMed ID: 19479957
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  • 18. Generation of a Primary Hyperoxaluria Type 1 Disease Model Via CRISPR/Cas9 System in Rats.
    Zheng R, Fang X, He L, Shao Y, Guo N, Wang L, Liu M, Li D, Geng H.
    Curr Mol Med; 2018 Jun 01; 18(7):436-447. PubMed ID: 30539697
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  • 20. Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
    Coulter-Mackie MB, Rumsby G.
    Mol Genet Metab; 2004 Jun 01; 83(1-2):38-46. PubMed ID: 15464418
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