Literature DB >> 7649554

A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis.

A M Barbieri1, N Soriani, G M Tubiello, M Ferrari, P Carrera.   

Abstract

Heteroduplex analysis was used to search for small mutations in a sample of 40 Italian DMD/BMB patients in whom large rearrangements were not found. A novel nonsense mutation in exon 17 of the dystrophin gene, consisting of a C to T transition, is described.

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Year:  1995        PMID： 7649554     DOI： 10.1007/BF00210420

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  5 in total

1.  A new intragenic polymorphism detected by the single-strand conformation polymorphism (SSCP) assay in the dystrophin gene.

Authors:  S Tuffery; J Demaille; M Claustress
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

2.  Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.

Authors:  A H Beggs; M Koenig; F M Boyce; L M Kunkel
Journal:  Hum Genet       Date:  1990-11       Impact factor: 4.132

3.  Identification of a novel T-insertion polymorphism at the DMD locus.

Authors:  F Muntoni; M Cau; R Congiu; M Congia; A Cao; M A Melis
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

4.  Base substitutions in the human dystrophin gene: detection by using the single-strand conformation polymorphism (SSCP) technique.

Authors:  S Tuffery; P Moine; J Demaille; M Claustres
Journal:  Hum Mutat       Date:  1993       Impact factor: 4.878

5.  Carrier detection in DMD families with point mutations, using PCR-SSCP and direct sequencing.

Authors:  U Lenk; R Hanke; A Speer
Journal:  Neuromuscul Disord       Date:  1994 Sep-Nov       Impact factor: 4.296
  5 in total

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