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Journal Abstract Search

115 related items for PubMed ID: 10684360

  • 1. Mutational analysis of COL4A5 gene in Korean Alport syndrome.
    Cheong HI, Park HW, Ha IS, Choi Y.
    Pediatr Nephrol; 2000 Feb; 14(2):117-21. PubMed ID: 10684360
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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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  • 3. Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.
    Boye E, Flinter F, Zhou J, Tryggvason K, Bobrow M, Harris A.
    Hum Mutat; 1995 Aug; 5(3):197-204. PubMed ID: 7599631
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  • 10. 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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  • 11. X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
    Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, Turco A, Heiskari N, Zhou J, Gusmano R, Massella L, Banfi G, Scolari F, Sessa A, Rizzoni G, Tryggvason K, Pignatti PF, Savi M, Ballabio A, De Marchi M.
    Am J Hum Genet; 1996 Jun; 58(6):1192-204. PubMed ID: 8651296
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  • 12. 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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  • 13. A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome.
    Hertz JM, Heiskari N, Zhou J, Jensen UB, Tryggvason K.
    Kidney Int; 1995 Jan; 47(1):327-32. PubMed ID: 7731166
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  • 14. The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.
    Kawai S, Nomura S, Harano T, Harano K, Fukushima T, Osawa G.
    Kidney Int; 1996 Mar; 49(3):814-22. PubMed ID: 8648925
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  • 16. 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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  • 17. 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; 17(2):485-9. PubMed ID: 8406498
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  • 19. Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.
    Neri TM, Zanelli P, De Palma G, Savi M, Rossetti S, Turco AE, Pignatti GF, Galli L, Bruttini M, Renieri A, Mingarelli R, Trivelli A, Pinciaroli AR, Ragaiolo M, Rizzoni GF, De Marchi M.
    Hum Mutat; 1998 Aug; Suppl 1():S106-9. PubMed ID: 9452056
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