Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts
Around 35% of Duchenne and Becker muscular dystrophy (DMD/BMD) patients cannot be identified by techniques which identify major DMD rearrangements in the dystrophin gene. In order to characterize the gene defect in these patients, we screened 40 exons of the dystrophin gene by heteroduplex analysis...
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| Veröffentlicht in: | European journal of human genetics : EJHG 1996, Vol.4 (3), p.183-187 |
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| container_title | European journal of human genetics : EJHG |
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| creator | Barbieri, A M Soriani, N Ferlini, A Michelato, A Ferrari, M Carrera, P |
| description | Around 35% of Duchenne and Becker muscular dystrophy (DMD/BMD) patients cannot be identified by techniques which identify major DMD rearrangements in the dystrophin gene. In order to characterize the gene defect in these patients, we screened 40 exons of the dystrophin gene by heteroduplex analysis on genomic DNA in 50 affected Italian males. Using conventional heteroduplex analysis and a modified heteroduplex analysis on restricted RT-PCR products of illegitimate transcripts, restricted RT-PCR heteroduplex analysis, we were able to identify 7 novel small mutations and a new alternative splicing involving exon 25 of the dystrophin gene in peripheral blood lymphocytes and skeletal muscle transcripts. |
| doi_str_mv | 10.1159/000472193 |
| format | Article |
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| identifier | ISSN: 1018-4813 |
| ispartof | European journal of human genetics : EJHG, 1996, Vol.4 (3), p.183-187 |
| issn | 1018-4813 1476-5438 |
| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Alternative Splicing Base Sequence Blotting, Southern DNA - chemistry Dystrophin - genetics Exons Humans Introns Male Molecular Sequence Data Muscular Dystrophies - genetics Nucleic Acid Conformation Nucleic Acid Heteroduplexes - analysis Polymerase Chain Reaction Sequence Deletion Transcription, Genetic |
| title | Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts |
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