Literature DB >> 8589698

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.

G P Comi1, E Ciafaloni, H A de Silva, A Prelle, A Bardoni, C Rigoletto, M Robotti, N Bresolin, M Moggio, F Fortunato.   

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Year:  1995        PMID： 8589698     DOI： 10.1093/hmg/4.11.2171

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  4 in total

1.  Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.

Authors:  P A Roest; M Bout; A C van der Tuijn; I B Ginjaar; E Bakker; F B Hogervorst; G J van Ommen; J T den Dunnen
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

2.  Dystrophin and utrophin isoforms are expressed in glia, but not neurons, of the avian parasympathetic ciliary ganglion.

Authors:  Rachel Blitzblau; Elizabeth K Storer; Michele H Jacob
Journal:  Brain Res       Date:  2008-05-06       Impact factor: 3.252

3.  Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Authors:  Francesca Magri; Roberto Del Bo; Maria G D'Angelo; Alessandra Govoni; Serena Ghezzi; Sandra Gandossini; Monica Sciacco; Patrizia Ciscato; Andreina Bordoni; Silvana Tedeschi; Francesco Fortunato; Valeria Lucchini; Matteo Cereda; Stefania Corti; Maurizio Moggio; Nereo Bresolin; Giacomo P Comi
Journal:  BMC Med Genet       Date:  2011-03-11       Impact factor: 2.103

4.  Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene.

Authors:  Hardeep Singh Malhotra; Ratish Juyal; Kiran Preet Malhotra; Rakesh Shukla
Journal:  Ann Indian Acad Neurol       Date:  2011-01       Impact factor: 1.383
  4 in total

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