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Journal Abstract Search

222 related items for PubMed ID: 12436246

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  • 3. Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
    Hertz JM, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen MB, Kjeldsen M, Gregersen N.
    Hum Mutat; 2001 Aug; 18(2):141-8. PubMed ID: 11462238
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  • 5. 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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  • 6. [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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  • 8. X-linked Alport syndrome caused by splicing mutations in COL4A5.
    Nozu K, Vorechovsky I, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Hashimoto F, Kamei K, Ito S, Kaku Y, Imasawa T, Ushijima K, Shimizu J, Makita Y, Konomoto T, Yoshikawa N, Iijima K.
    Clin J Am Soc Nephrol; 2014 Nov 07; 9(11):1958-64. PubMed ID: 25183659
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  • 9. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
    Mukhopadhyay A, Nikopoulos K, Maugeri A, de Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen PR, van der Velde-Visser SD, Brunner HG, Black GC, Hoyng CB, Cremers FP.
    Invest Ophthalmol Vis Sci; 2006 Aug 07; 47(8):3565-72. PubMed ID: 16877430
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  • 13. A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.
    Williams CJ, Ganguly A, Considine E, McCarron S, Prockop DJ, Walsh-Vockley C, Michels VV.
    Am J Med Genet; 1996 Jun 14; 63(3):461-7. PubMed ID: 8737653
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  • 17. Detection of mutations in COL4A5 in patients with Alport syndrome.
    Plant KE, Green PM, Vetrie D, Flinter FA.
    Hum Mutat; 1999 Jun 14; 13(2):124-32. PubMed ID: 10094548
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  • 20. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
    Habara Y, Takeshima Y, Awano H, Okizuka Y, Zhang Z, Saiki K, Yagi M, Matsuo M.
    J Med Genet; 2009 Aug 14; 46(8):542-7. PubMed ID: 19001018
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