Sequencing chromatograms from the affected individual IV-1 and parent II-1. Arrows mark two different C>T changes in a homozygous state in the affected individual IV-1 and in a heterozygous state in the parent II-1. + denotes the wild-type allele. m1 and m2 denote two different mutant alleles.</p
Letters with pink and blue shading indicate mutated and wild-type sequences, respectively. (PDF)</p
<p>(A) Each arrow indicates the position of the nucleotide variant that results in the substitution ...
<p>Filled symbols represent patients with TRAPS; open squares and circles indicate healthy individua...
(Upper panel) Sequencing chromatogram from the affected individual II-2 from family-123. Arrow marks...
(Upper panel) Sequencing chromatogram of the affected individual IV-5 from family-128. Arrow marks t...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and parent I-1 from family-...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and the parent I-1 from fam...
(Upper panel) Sequencing chromatograms from the affected individual II-1 and parent I-1 from the fam...
(Upper panel) Sequencing chromatograms from the affected individual V-1 and parent IV-1 from family-...
(Upper panel) Sequencing chromatograms from the affected individual IV-1 and the parent III-1 showin...
<p>Below the individuals, genotypes are presented for either p.S1653KfsX2 (M1), p.L2784R (M2), p.Y29...
<p>(A) Schematic representation of the relative linear location of all four <i>MYO7A</i> mutations i...
<p>DNA sequencing chromatograms of representative heterozygous <i>IDH1</i> mutations and reference w...
Sequencing chromatograms demonstrating the homozygous wild type, hetrozygous and homozygous mutant g...
<p>(A) Double peaks labeled with an arrow represented the heterozygous genotype TC (AG). (B) Single ...
Letters with pink and blue shading indicate mutated and wild-type sequences, respectively. (PDF)</p
<p>(A) Each arrow indicates the position of the nucleotide variant that results in the substitution ...
<p>Filled symbols represent patients with TRAPS; open squares and circles indicate healthy individua...
(Upper panel) Sequencing chromatogram from the affected individual II-2 from family-123. Arrow marks...
(Upper panel) Sequencing chromatogram of the affected individual IV-5 from family-128. Arrow marks t...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and parent I-1 from family-...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and the parent I-1 from fam...
(Upper panel) Sequencing chromatograms from the affected individual II-1 and parent I-1 from the fam...
(Upper panel) Sequencing chromatograms from the affected individual V-1 and parent IV-1 from family-...
(Upper panel) Sequencing chromatograms from the affected individual IV-1 and the parent III-1 showin...
<p>Below the individuals, genotypes are presented for either p.S1653KfsX2 (M1), p.L2784R (M2), p.Y29...
<p>(A) Schematic representation of the relative linear location of all four <i>MYO7A</i> mutations i...
<p>DNA sequencing chromatograms of representative heterozygous <i>IDH1</i> mutations and reference w...
Sequencing chromatograms demonstrating the homozygous wild type, hetrozygous and homozygous mutant g...
<p>(A) Double peaks labeled with an arrow represented the heterozygous genotype TC (AG). (B) Single ...
Letters with pink and blue shading indicate mutated and wild-type sequences, respectively. (PDF)</p
<p>(A) Each arrow indicates the position of the nucleotide variant that results in the substitution ...
<p>Filled symbols represent patients with TRAPS; open squares and circles indicate healthy individua...