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Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.
Gigante, Maddalena; d'Altilia, Marilena; Montemurno, Eustacchio; Diella, Sterpeta; Bruno, Francesca; Netti, Giuseppe S; Ranieri, Elena; Stallone, Giovanni; Infante, Barbara; Grandaliano, Giuseppe; Gesualdo, Loreto.
Affiliation
  • Gigante M; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy. mgigante@medicina.unifg.it
BMC Nephrol ; 14: 60, 2013 Mar 18.
Article in En | MEDLINE | ID: mdl-23506628
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Full text: 1 Database: MEDLINE Main subject: Nuclear Proteins / Glomerulosclerosis, Focal Segmental / Protein Tyrosine Phosphatases / Branchio-Oto-Renal Syndrome / RNA Splice Sites / Intracellular Signaling Peptides and Proteins / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Humans / Male Language: En Year: 2013 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Nuclear Proteins / Glomerulosclerosis, Focal Segmental / Protein Tyrosine Phosphatases / Branchio-Oto-Renal Syndrome / RNA Splice Sites / Intracellular Signaling Peptides and Proteins / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Humans / Male Language: En Year: 2013 Type: Article