<p>The X-axis indicates the exon intervals for breakpoints across the <i>DMD</i> gene. The Y-axis represents the frequency of sequence breakpoints (per kb). Two DMD deletion hotspots, located within exon 43–55 and within exon 10–23, are shown in pink and yellow, respectively.</p
<p>(A) Sequence logo of the degenerate 11-mer motif over-represented in the close vicinity (±15 bp) ...
Duchenne muscular dystrophy is an inherited muscle wasting disease with severe symptoms and onset in...
<p>X axis indicates the number each breakpoint was detected in our study. Break points detected in s...
<p><i>DMD</i> mutations were detected using MLPA. The X-axis represents exon position, and the Y-axi...
<p>(a) Amplification of patient and normal DNA with HIn4 F4 and the reverse primer targeted to exon ...
<p>(A) Breakpoints in deletions. (B) Breakpoints in duplications. 5’ breakpoints in grey and 3’ brea...
Exon deletions in the human DMD gene, which encodes the dystrophin protein, are the molecular defect...
International audienceBACKGROUND:Dystrophinopathies are mostly caused by copy number variations, esp...
<p>Exon numbers for the <i>Dystrophin</i> gene are indicated at the top. The number of cases having ...
<p><b>A</b> Coverage plots (IGV) of three control (ctrl) patients versus the index (idx) sample illu...
The routine detection of large and medium copy number variants (CNVs) is well established. Hemizygot...
<p>Distributions of left and right breakpoints of aging-associated mtDNA deletions and of left and r...
<p>(A) The presence and frequency of non-frameshift deletions is shown for the peripheral blood subs...
<p>IGV display of the 5’ (A) and the 3’ breakpoint regions (B), in a DMD-affected and a control dog....
Over 60% of Duchenne and Becker muscular dystrophies are caused by deletions spanning tens or hundre...
<p>(A) Sequence logo of the degenerate 11-mer motif over-represented in the close vicinity (±15 bp) ...
Duchenne muscular dystrophy is an inherited muscle wasting disease with severe symptoms and onset in...
<p>X axis indicates the number each breakpoint was detected in our study. Break points detected in s...
<p><i>DMD</i> mutations were detected using MLPA. The X-axis represents exon position, and the Y-axi...
<p>(a) Amplification of patient and normal DNA with HIn4 F4 and the reverse primer targeted to exon ...
<p>(A) Breakpoints in deletions. (B) Breakpoints in duplications. 5’ breakpoints in grey and 3’ brea...
Exon deletions in the human DMD gene, which encodes the dystrophin protein, are the molecular defect...
International audienceBACKGROUND:Dystrophinopathies are mostly caused by copy number variations, esp...
<p>Exon numbers for the <i>Dystrophin</i> gene are indicated at the top. The number of cases having ...
<p><b>A</b> Coverage plots (IGV) of three control (ctrl) patients versus the index (idx) sample illu...
The routine detection of large and medium copy number variants (CNVs) is well established. Hemizygot...
<p>Distributions of left and right breakpoints of aging-associated mtDNA deletions and of left and r...
<p>(A) The presence and frequency of non-frameshift deletions is shown for the peripheral blood subs...
<p>IGV display of the 5’ (A) and the 3’ breakpoint regions (B), in a DMD-affected and a control dog....
Over 60% of Duchenne and Becker muscular dystrophies are caused by deletions spanning tens or hundre...
<p>(A) Sequence logo of the degenerate 11-mer motif over-represented in the close vicinity (±15 bp) ...
Duchenne muscular dystrophy is an inherited muscle wasting disease with severe symptoms and onset in...
<p>X axis indicates the number each breakpoint was detected in our study. Break points detected in s...