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Journal Abstract Search

152 related items for PubMed ID: 7599631

  • 21. Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis.
    Zhang X, Zhou J, Reeders ST, Tryggvason K.
    Genomics; 1996 May 01; 33(3):473-9. PubMed ID: 8661006
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  • 22. MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.
    Hertz JM, Juncker I, Marcussen N.
    Clin Genet; 2008 Dec 01; 74(6):522-30. PubMed ID: 18616531
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  • 24. Comparison of heteroduplex and single-strand conformation analyses, followed by ethidium fluorescence visualization, for the detection of mutations in four human genes.
    Rossetti S, Corrà S, Biasi MO, Turco AE, Pignatti PF.
    Mol Cell Probes; 1995 Jun 01; 9(3):195-200. PubMed ID: 7477013
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  • 25. De-novo COL4A5 gene mutations in Alport's syndrome.
    Massella L, Rizzoni G, De Blasis R, Barsotti P, Faraggiana T, Renieri A, Seri M, Galli L, De Marchi M.
    Nephrol Dial Transplant; 1994 Jun 01; 9(10):1408-11. PubMed ID: 7816253
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  • 26. 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 01; 34(5):854-62. PubMed ID: 10561141
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  • 27. Mutational analysis of COL4A5 gene in Korean Alport syndrome.
    Cheong HI, Park HW, Ha IS, Choi Y.
    Pediatr Nephrol; 2000 Feb 01; 14(2):117-21. PubMed ID: 10684360
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  • 30. Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome.
    Dagher H, Yan Wang Y, Fassett R, Savige J.
    Hum Mutat; 2002 Oct 01; 20(4):321-2. PubMed ID: 12325029
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  • 32. Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome.
    Renieri A, Galli L, De Marchi M, Li Volti S, Mollica F, Lupo A, Maschio G, Peissel B, Rossetti S, Pignatti P.
    Hum Mol Genet; 1994 Jan 01; 3(1):201-2. PubMed ID: 8162029
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  • 35. Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome.
    Ellison J.
    Hum Genet; 2009 Aug 01; 126(2):331. PubMed ID: 19693995
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  • 36. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
    Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M.
    Invest Ophthalmol Vis Sci; 2002 Jun 01; 43(6):1715-24. PubMed ID: 12036970
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  • 38. de-novo Alport syndrome: for the diagnosis of inherited glomerulonephritis with neither any family history nor extrarenal manifestation.
    Fukushima T, Nomura S, Kawai S, Osawa G.
    Clin Nephrol; 1997 Aug 01; 48(2):134-5. PubMed ID: 9285155
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  • 39. Hereditary protein C deficiency associated with mutations in exon IX of the protein C gene.
    Doig RG, Begley CG, McGrath KM.
    Thromb Haemost; 1994 Aug 01; 72(2):203-8. PubMed ID: 7831652
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  • 40. Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.
    Lemmink HH, Mochizuki T, van den Heuvel LP, Schröder CH, Barrientos A, Monnens LA, van Oost BA, Brunner HG, Reeders ST, Smeets HJ.
    Hum Mol Genet; 1994 Aug 01; 3(8):1269-73. PubMed ID: 7987301
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