Literature DB >> 8401539

A novel nonsense mutation in the human dystrophin gene.

F A Saad1, G Vita, M Mora, L Morandi, L Vitiello, S Oliviero, G A Danieli.   

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Year:  1993        PMID： 8401539     DOI： 10.1002/humu.1380020413

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


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  4 in total

1.  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

2.  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

3.  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

4.  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
  4 in total

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