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注意:仅列出部分参考文献,下载原文获取全部文献信息。Regional genomic instability predisposes to complex dystrophin gene rearrangements
Junko Oshima et al.
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Characterization of a Complex Duchenne Muscular Dystrophy-Causing Dystrophin Gene Inversion and Restoration of the Reading Frame by Induced Exon Skipping
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DMD pseudoexon mutations: Splicing efficiency, phenotype, and potential therapy
Olga L. Gurvich et al.
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A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
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Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method
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Molecular diagnosis of Duchenne/Becker muscular dystrophy: Enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
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Microarray-based mutation detection in the dystrophin gene
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Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort
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Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms
CJ Shaw et al.
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Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method
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An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype
R Cagliani et al.
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Three-tiered noninvasive diagnosis in 96% of patients with duchenne muscular dystrophy (DMD)
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Rapid direct sequence analysis of the dystrophin gene
KM Flanigan et al.
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Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene
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Analysis of 22 deletion breakpoints in dystrophin intron 49
C Nobile et al.
HUMAN GENETICS (2002)