<p>RT-PCR analysis of the literature-derived E<sup>+1</sup> variations. The splicing affecting sequences are underlined. (A) The test set sequences. cDNA bands originating from <i>BTK</i> exon 10 mutated minigene are numbered as follows: 1) cryptic 3′ss utilization 31 nt upstream of the authentic splice site (the aberrant exon starts at c.840-31G), 2) normally spliced RNA. (B) The borderline set sequences.</p
<p>Top, middle and bottom panels refer to results obtained with ΔtESRseq-, ΔHZ<sub>EI-</sub> and ΔΨ-...
Background: Pre‐mRNA splicing is a complex process requiring the identification of donor site, accep...
<p>A. Graphic representation of pre-mRNA splicing of wild type and mutant (C.1243+2T>A) minigenes of...
<p>(A) Schematic sequences of mutated acceptor splice sites. Introns are shown in lower-case, and ex...
<p>(A) Schematic representation of FIX exon 5 sequence showing the location of the deletions, the ex...
<p>The upper panel shows the location and predicted splice scores of the natural and cryptic (wild t...
<p>(A) Distribution of all SNVs reported in <i>MLH1</i> exon 10 (n = 22). The diagram shows the nucl...
Although several bioinformatic tools exist to predict the effect on splicing of a nucleotide change,...
Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variant...
<p>(<b>A</b>) U1-70K minigene constructs used for <i>in vivo</i> splicing analysis (see panel B), in...
<p>(A) A wild-type <i>eIF4H</i> minigene, containing exons 4–6 and the intervening introns, was muta...
International audienceCombining data derived from a meta-analysis of human disease-associated 5′ spl...
High-throughput next-generation sequencing technologies have led to a rapid increase in the number o...
<div><p>Mutation screening of the breast cancer genes <i>BRCA1</i> and <i>BRCA2</i> identifies a lar...
<p>A) Schematic drawing of the location of the primers, the murine and human cryptic splice sites an...
<p>Top, middle and bottom panels refer to results obtained with ΔtESRseq-, ΔHZ<sub>EI-</sub> and ΔΨ-...
Background: Pre‐mRNA splicing is a complex process requiring the identification of donor site, accep...
<p>A. Graphic representation of pre-mRNA splicing of wild type and mutant (C.1243+2T>A) minigenes of...
<p>(A) Schematic sequences of mutated acceptor splice sites. Introns are shown in lower-case, and ex...
<p>(A) Schematic representation of FIX exon 5 sequence showing the location of the deletions, the ex...
<p>The upper panel shows the location and predicted splice scores of the natural and cryptic (wild t...
<p>(A) Distribution of all SNVs reported in <i>MLH1</i> exon 10 (n = 22). The diagram shows the nucl...
Although several bioinformatic tools exist to predict the effect on splicing of a nucleotide change,...
Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variant...
<p>(<b>A</b>) U1-70K minigene constructs used for <i>in vivo</i> splicing analysis (see panel B), in...
<p>(A) A wild-type <i>eIF4H</i> minigene, containing exons 4–6 and the intervening introns, was muta...
International audienceCombining data derived from a meta-analysis of human disease-associated 5′ spl...
High-throughput next-generation sequencing technologies have led to a rapid increase in the number o...
<div><p>Mutation screening of the breast cancer genes <i>BRCA1</i> and <i>BRCA2</i> identifies a lar...
<p>A) Schematic drawing of the location of the primers, the murine and human cryptic splice sites an...
<p>Top, middle and bottom panels refer to results obtained with ΔtESRseq-, ΔHZ<sub>EI-</sub> and ΔΨ-...
Background: Pre‐mRNA splicing is a complex process requiring the identification of donor site, accep...
<p>A. Graphic representation of pre-mRNA splicing of wild type and mutant (C.1243+2T>A) minigenes of...