Literature DB >> 1303213

A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions.

F A Saad1, L Vitiello, L Merlini, M L Mostacciuolo, S Oliviero, G A Danieli.   

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Year:  1992        PMID： 1303213     DOI： 10.1093/hmg/1.5.345

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


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  12 in total

1.  Cardiac sulfonylurea receptor short form-based channels confer a glibenclamide-insensitive KATP activity.

Authors:  Jie-Lin Pu; Bin Ye; Stacie L Kroboth; Elizabeth M McNally; Jonathan C Makielski; Nian-Qing Shi
Journal:  J Mol Cell Cardiol       Date:  2007-09-29       Impact factor: 5.000

Review 2.  Circular RNA Expression: Its Potential Regulation and Function.

Authors:  Julia Salzman
Journal:  Trends Genet       Date:  2016-04-02       Impact factor: 11.639

3.  Single base substitutions are detected by double strand conformation analysis.

Authors:  F A Saad; B Halliger; C R Müller; R G Roberts; G A Danieli
Journal:  Nucleic Acids Res       Date:  1994-10-11       Impact factor: 16.971

4.  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

5.  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

6.  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

7.  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

8.  Molecular identification and functional characterization of a mitochondrial sulfonylurea receptor 2 splice variant generated by intraexonic splicing.

Authors:  Bin Ye; Stacie L Kroboth; Jie-Lin Pu; Jason J Sims; Nitin T Aggarwal; Elizabeth M McNally; Jonathan C Makielski; Nian-Qing Shi
Journal:  Circ Res       Date:  2009-10-01       Impact factor: 17.367

9.  Circular RNAs are the predominant transcript isoform from hundreds of human genes in diverse cell types.

Authors:  Julia Salzman; Charles Gawad; Peter Lincoln Wang; Norman Lacayo; Patrick O Brown
Journal:  PLoS One       Date:  2012-02-01       Impact factor: 3.240

10.  Circles within circles: commentary on Ghosal et al. (2013) "Circ2Traits: a comprehensive database for circular RNA potentially associated with disease and traits".

Authors:  John M Hancock
Journal:  Front Genet       Date:  2015-01-07       Impact factor: 4.599
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