Literature DB >> 8396066

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

F Muntoni1, M Cau, R Congiu, M Congia, A Cao, M A Melis.   

Abstract

We have identified a novel T-insertion polymorphism located in the second intron of the dystrophin gene. This polymorphism should prove useful in linkage studies in Duchenne and Becker muscular dystrophy families in addition to the previously described markers.

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Year:  1993        PMID： 8396066     DOI： 10.1007/bf00216157

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


  2 in total

1.  Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination.

Authors:  C Oudet; R Heilig; A Hanauer; J L Mandel
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

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
  2 in total
  4 in total

1.  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

2.  An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed.

Authors:  Bruce F Smith; Yongping Yue; Philip R Woods; Joe N Kornegay; Jin-Hong Shin; Regina R Williams; Dongsheng Duan
Journal:  Lab Invest       Date:  2010-08-16       Impact factor: 5.662

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

Authors:  A M Barbieri; N Soriani; G M Tubiello; M Ferrari; P Carrera
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

4.  Mutation types and aging differently affect revertant fiber expansion in dystrophic mdx and mdx52 mice.

Authors:  Yusuke Echigoya; Joshua Lee; Merryl Rodrigues; Tetsuya Nagata; Jun Tanihata; Ashkan Nozohourmehrabad; Dharminder Panesar; Bailey Miskew; Yoshitsugu Aoki; Toshifumi Yokota
Journal:  PLoS One       Date:  2013-07-24       Impact factor: 3.240
  4 in total

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