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Journal Abstract Search

190 related items for PubMed ID: 23290210

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  • 7. [Detection of a novel mutation in COL4A5 gene from a Chinese family with X-linked alport syndrome].
    Peng CL, Liang H, Z ou QL, Wang J, Liu CS, Zhang XF, Chen J, Hu SN.
    Yi Chuan Xue Bao; 2004 Nov; 31(11):1190-5. PubMed ID: 15651669
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  • 9. Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.
    Nabais Sá MJ, Sampaio S, Oliveira A, Alves S, Moura CP, Silva SE, Castro R, Araújo JA, Rodrigues M, Neves F, Seabra J, Soares C, Gaspar MA, Tavares I, Freitas L, Sousa TC, Henriques AC, Costa FT, Morgado E, Sousa FT, Sousa JP, da Costa AG, Filipe R, Garrido J, Montalban J, Ponce P, Alves R, Faria B, Carvalho MF, Pestana M, Carvalho F, Oliveira JP.
    Clin Genet; 2015 Nov; 88(5):462-7. PubMed ID: 25307721
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  • 10. Correlation between mRNA expression level of the mutant COL4A5 gene and phenotypes of XLAS females.
    Wang Y, Zhang H, Ding J, Wang F.
    Exp Biol Med (Maywood); 2007 May; 232(5):638-42. PubMed ID: 17463160
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  • 14. Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome.
    Pan X, Yan J, Ren H, Zhang W, Shi H, Yu H, Wang C, Hao C, Chen X, Chen N.
    Nephrol Dial Transplant; 2004 May; 19(5):1123-8. PubMed ID: 14993485
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  • 15. Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome.
    Heiskari N, Zhang X, Zhou J, Leinonen A, Barker D, Gregory M, Atkin CL, Netzer KO, Weber M, Reeders S, Grönhagen-Riska C, Neumann HP, Trembath R, Tryggvason K.
    J Am Soc Nephrol; 1996 May; 7(5):702-9. PubMed ID: 8738805
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  • 16. Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.
    Krol RP, Nozu K, Nakanishi K, Iijima K, Takeshima Y, Fu XJ, Nozu Y, Kaito H, Kanda K, Matsuo M, Yoshikawa N.
    Nephrol Dial Transplant; 2008 Aug; 23(8):2525-30. PubMed ID: 18332068
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  • 18. Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.
    Inoue Y, Nishio H, Shirakawa T, Nakanishi K, Nakamura H, Sumino K, Nishiyama K, Iijima K, Yoshikawa N.
    Am J Kidney Dis; 1999 Nov; 34(5):854-62. PubMed ID: 10561141
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