Literature DB >> 11241855

A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.

M Sironi1, S Corti, F Locatelli, R Cagliani, G P Comi.   

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Year:  2001        PMID： 11241855     DOI： 10.1002/humu.18

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

Review 1.  Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders.

Authors:  Vittoria Pagliarini; Piergiorgio La Rosa; Claudio Sette
Journal:  Hum Genet       Date:  2017-04-22       Impact factor: 4.132

2.  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

3.  Antisense suppression of donor splice site mutations in the dystrophin gene transcript.

Authors:  Sue Fletcher; Penny L Meloni; Russell D Johnsen; Brenda L Wong; Francesco Muntoni; Stephen D Wilton
Journal:  Mol Genet Genomic Med       Date:  2013-06-13       Impact factor: 2.183
  3 in total

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