Portal de Periódicos da CAPES

A G+1->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp 116 and severe clinical involvement in a DMD patient

1995; Oxford University Press; Volume: 4; Issue: 11 Linguagem: Inglês

10.1093/hmg/4.11.2171

1460-2083

Giacomo P. Comi, Emma Ciafaloni, Horacio Silva, A. Prelle, Alessandra Bardoni, C. Rigoletto, Micaela Robotti, Nereo Bresolin, Maurizio Moggio, Francesco Fortunato, Patrizia Ciscato, Anna Carla Turconi, Arthur Rose, G. Scarlato,

RNA regulation and disease

Journal Article A G+1→A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp 116 and severe clinical involvement in a DMD patient Get access Giacomo P. Comi, Giacomo P. Comi * Institute of Clinical Neurology, Dino Ferrari Center, University of MilanoMilano, Italy *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Emma Ciafaloni, Emma Ciafaloni 1Division of Neurology, Duke University Medical CenterDurham, NC, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar H.A.Rohan de Silva, H.A.Rohan de Silva 1Division of Neurology, Duke University Medical CenterDurham, NC, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Alessandro Prelle, Alessandro Prelle Institute of Clinical Neurology, Dino Ferrari Center, University of MilanoMilano, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Alessandra Bardoni, Alessandra Bardoni Institute of Clinical Neurology, Dino Ferrari Center, University of MilanoMilano, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Catia Rigoletto, Catia Rigoletto Institute of Clinical Neurology, Dino Ferrari Center, University of MilanoMilano, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Micaela Robotti, Micaela Robotti Institute of Clinical Neurology, Dino Ferrari Center, University of MilanoMilano, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Nereo Bresolin, Nereo Bresolin Institute of Clinical Neurology, Dino Ferrari Center, University of MilanoMilano, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Maurizio Moggio, Maurizio Moggio Institute of Clinical Neurology, Dino Ferrari Center, University of MilanoMilano, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Francesco Fortunato, Francesco Fortunato Institute of Clinical Neurology, Dino Ferrari Center, University of MilanoMilano, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar ... Show more Patrizia Ciscato, Patrizia Ciscato Institute of Clinical Neurology, Dino Ferrari Center, University of MilanoMilano, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Anna Turconi, Anna Turconi 2Istituto Scientifico E.Medea, Bosisio PariniComo, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Allen D. Rose, Allen D. Rose 1Division of Neurology, Duke University Medical CenterDurham, NC, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Guglielmo Scarlato Guglielmo Scarlato Institute of Clinical Neurology, Dino Ferrari Center, University of MilanoMilano, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 4, Issue 11, November 1995, Pages 2171–2174, https://doi.org/10.1093/hmg/4.11.2171 Published: 01 November 1995 Article history Received: 09 February 1995 Revision received: 22 August 1995 Accepted: 22 August 1995 Published: 01 November 1995