A G+1→A transversion at the 5′ splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient

Giacomo P. Comi, Emma Ciafaloni, H. A Rohan De Silva, Alessandro Prelle, Alessandra Bardoni, Catia Rigoletto, Micaela Robotti, Nereo Bresolin, Maurizio Moggio, Francesco Fortunato, Patrizia Ciscato, Anna Turconi, Allen D. Rose, Guglielmo Scarlato

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)2171-2174
Number of pages4
JournalHuman Molecular Genetics
Volume4
Issue number11
Publication statusPublished - Nov 1995

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

A G+1→A transversion at the 5′ splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient. / Comi, Giacomo P.; Ciafaloni, Emma; De Silva, H. A Rohan; Prelle, Alessandro; Bardoni, Alessandra; Rigoletto, Catia; Robotti, Micaela; Bresolin, Nereo; Moggio, Maurizio; Fortunato, Francesco; Ciscato, Patrizia; Turconi, Anna; Rose, Allen D.; Scarlato, Guglielmo.

In: Human Molecular Genetics, Vol. 4, No. 11, 11.1995, p. 2171-2174.

Research output: Contribution to journalArticle

Comi, GP, Ciafaloni, E, De Silva, HAR, Prelle, A, Bardoni, A, Rigoletto, C, Robotti, M, Bresolin, N, Moggio, M, Fortunato, F, Ciscato, P, Turconi, A, Rose, AD & Scarlato, G 1995, 'A G+1→A transversion at the 5′ splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient', Human Molecular Genetics, vol. 4, no. 11, pp. 2171-2174.
Comi, Giacomo P. ; Ciafaloni, Emma ; De Silva, H. A Rohan ; Prelle, Alessandro ; Bardoni, Alessandra ; Rigoletto, Catia ; Robotti, Micaela ; Bresolin, Nereo ; Moggio, Maurizio ; Fortunato, Francesco ; Ciscato, Patrizia ; Turconi, Anna ; Rose, Allen D. ; Scarlato, Guglielmo. / A G+1→A transversion at the 5′ splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient. In: Human Molecular Genetics. 1995 ; Vol. 4, No. 11. pp. 2171-2174.
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AU - De Silva, H. A Rohan

AU - Prelle, Alessandro

AU - Bardoni, Alessandra

AU - Rigoletto, Catia

AU - Robotti, Micaela

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AU - Moggio, Maurizio

AU - Fortunato, Francesco

AU - Ciscato, Patrizia

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AU - Rose, Allen D.

AU - Scarlato, Guglielmo

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