Literature DB >> 1301174

Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient.

A V Winnard1, Y Jia-Hsu, R A Gibbs, J R Mendell, A H Burghes.   

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Year:  1992        PMID： 1301174     DOI： 10.1093/hmg/1.8.645

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


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  7 in total

1.  A novel cryptic exon identified in the 3' region of intron 2 of the human dystrophin gene.

Authors:  Van Khanh Tran; Zhujun Zhang; Mariko Yagi; Atsushi Nishiyama; Yasuaki Habara; Yasuhiro Takeshima; Masafumi Matsuo
Journal:  J Hum Genet       Date:  2005-08-30       Impact factor: 3.172

2.  Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

Authors:  Kevin M Flanigan; Diane M Dunn; Andrew von Niederhausern; Payam Soltanzadeh; Michael T Howard; Jacinda B Sampson; Kathryn J Swoboda; Mark B Bromberg; Jerry R Mendell; Laura E Taylor; Christine B Anderson; Alan Pestronk; Julaine M Florence; Anne M Connolly; Katherine D Mathews; Brenda Wong; Richard S Finkel; Carsten G Bonnemann; John W Day; Craig McDonald; Robert B Weiss
Journal:  Hum Mutat       Date:  2011-03       Impact factor: 4.878

3.  Spectrum of small mutations in the dystrophin coding region.

Authors:  T W Prior; C Bartolo; D K Pearl; A C Papp; P J Snyder; M S Sedra; A H Burghes; J R Mendell
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

4.  A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy.

Authors:  Y Hagiwara; H Nishio; Y Kitoh; Y Takeshima; N Narita; H Wada; M Yokoyama; H Nakamura; M Matsuo
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025

5.  Microlesions and polymorphisms in the Duchenne/Becker muscular dystrophy gene.

Authors:  F Rininsland; J Reiss
Journal:  Hum Genet       Date:  1994-08       Impact factor: 4.132

6.  Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production.

Authors:  A V Winnard; J R Mendell; T W Prior; J Florence; A H Burghes
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

7.  Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe.

Authors:  Y Takeshima; H Nishio; H Sakamoto; H Nakamura; M Matsuo
Journal:  J Clin Invest       Date:  1995-02       Impact factor: 14.808
  7 in total

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