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Alport syndrome caused by a 5′ deletion within the COL4A5 gene

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Summary

Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (> 38 kb) that included the 5′ part of the gene.

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Authors and Affiliations

  1. Cattedra di Genetica Medica, Dipartimento di Biologia Molecolare, Università di Siena, I-53100, Siena, Italy

    Alessandra Renieri, Marco Seri & Mario De Marchi

  2. Department of Biochemistry and Biophysics, University of Pennsylvania, 19104, Philadelphia, PA, USA

    Jeanne C. Myers

  3. Collagen Research Unit, Biocenter and Department of Medical Biochemistry, University of Oulu, SF-90220, Oulu, Finland

    Taina Pihlajaniemi

  4. Divisione di Nefrologia e Dialisi, Ospedale civile, Vimercate, I-20059, Vimercate, Italy

    Adalberto Sessa

  5. Divisione di Nefrologia e Dialisi, Ospedale Bambin Gesù, I-00165, Rome, Italy

    Gianfranco Rizzoni

Authors
  1. Alessandra Renieri
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  2. Marco Seri
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  3. Jeanne C. Myers
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  4. Taina Pihlajaniemi
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  5. Adalberto Sessa
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  6. Gianfranco Rizzoni
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  7. Mario De Marchi
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Renieri, A., Seri, M., Myers, J.C. et al. Alport syndrome caused by a 5′ deletion within the COL4A5 gene. Hum Genet 89, 120–121 (1992). https://doi.org/10.1007/BF00207059

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  • DOI: https://doi.org/10.1007/BF00207059

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