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Journal Abstract Search

152 related items for PubMed ID: 7599631

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  • 2. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
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  • 7. Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome.
    King K, Flinter FA, Nihalani V, Green PM.
    Hum Genet; 2002 Dec; 111(6):548-54. PubMed ID: 12436246
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  • 8. Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.
    Martin P, Heiskari N, Pajari H, Grönhagen-Riska C, Kääriäinen H, Koskimies O, Tryggvason K.
    Hum Mutat; 2000 Jun; 15(6):579. PubMed ID: 10862091
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  • 11. A single-base mutation in exon 31 converting glycine 852 to arginine in the collagenous domain in an Alport syndrome patient.
    Kawai S, Nomura S, Harano T, Harano K, Fukushima T, Wago M, Shimizu B, Osawa G.
    Nephron; 1996 Jun; 74(2):333-6. PubMed ID: 8893151
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  • 12. Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.
    Knebelmann B, Breillat C, Forestier L, Arrondel C, Jacassier D, Giatras I, Drouot L, Deschênes G, Grünfeld JP, Broyer M, Gubler MC, Antignac C.
    Am J Hum Genet; 1996 Dec; 59(6):1221-32. PubMed ID: 8940267
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  • 13. Clinical and genetic mapping of X chromosome in the X-linked dominant inherited Alport's syndrome.
    Dai Y, Huang Y, He X, Wang S, Huang R, Tang M, Hu C.
    Saudi J Kidney Dis Transpl; 2008 Sep; 19(5):767-74. PubMed ID: 18711293
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  • 15. [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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  • 17. Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.
    Barker DF, Denison JC, Atkin CL, Gregory MC.
    Am J Med Genet; 2001 Jan 15; 98(2):148-60. PubMed ID: 11223851
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  • 18. Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.
    Lemmink HH, Schröder CH, Brunner HG, Nelen MR, Zhou J, Tryggvason K, Haagsma-Schouten WA, Roodvoets AP, Rascher W, van Oost BA.
    Genomics; 1993 Aug 15; 17(2):485-9. PubMed ID: 8406498
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  • 19. Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.
    Antignac C, Knebelmann B, Drouot L, Gros F, Deschênes G, Hors-Cayla MC, Zhou J, Tryggvason K, Grünfeld JP, Broyer M.
    J Clin Invest; 1994 Mar 15; 93(3):1195-207. PubMed ID: 8132760
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