<p><b>A</b>: Normal Sequence from control. <b>B</b>: Sequence from unaffected parents showing the c.265 T>A heterozygous mutation. <b>C</b>: Sequence from patient 1 with a new c.265 T>A homozygous mutation.</p
<p>DNA sequencing chromatograms of representative heterozygous <i>IDH1</i> mutations and reference w...
<p>In Family A, male patients show c.947A>G transition that is predicted to result in a p.D316G subs...
<p>The heterozygous C to T transition generated a stop codon TGA, in which the mutant T peak was low...
<p><b>A</b>: Normal Sequence from control and unaffected father. <b>B</b>: Sequence from patient 19 ...
(Upper panel) Sequencing chromatograms from the affected individual IV-1 and the parent III-1 showin...
(Upper panel) Sequencing chromatograms from the affected individual V-1 and parent IV-1 from family-...
(Upper panel) Sequencing chromatogram of the affected individual IV-5 from family-128. Arrow marks t...
Sequencing chromatograms from the affected individual IV-1 and parent II-1. Arrows mark two differen...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and the parent I-1 from fam...
(Upper panel) Sequencing chromatogram from the affected individual II-2 from family-123. Arrow marks...
<p>(<b>A</b>) Sequence of the <i>RYR1</i> gene revealed a homozygous A to G nucleotide substitution ...
(Upper panel) Sequencing chromatograms from the affected individual II-1 and parent I-1 from the fam...
*<p>Whole exome sequencing of genomic DNA from two <i>P43</i> mutants was performed. All mutations (...
<p>Changes also seen in the father are shown on the left, while those inherited from the mother are ...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and parent I-1 from family-...
<p>DNA sequencing chromatograms of representative heterozygous <i>IDH1</i> mutations and reference w...
<p>In Family A, male patients show c.947A>G transition that is predicted to result in a p.D316G subs...
<p>The heterozygous C to T transition generated a stop codon TGA, in which the mutant T peak was low...
<p><b>A</b>: Normal Sequence from control and unaffected father. <b>B</b>: Sequence from patient 19 ...
(Upper panel) Sequencing chromatograms from the affected individual IV-1 and the parent III-1 showin...
(Upper panel) Sequencing chromatograms from the affected individual V-1 and parent IV-1 from family-...
(Upper panel) Sequencing chromatogram of the affected individual IV-5 from family-128. Arrow marks t...
Sequencing chromatograms from the affected individual IV-1 and parent II-1. Arrows mark two differen...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and the parent I-1 from fam...
(Upper panel) Sequencing chromatogram from the affected individual II-2 from family-123. Arrow marks...
<p>(<b>A</b>) Sequence of the <i>RYR1</i> gene revealed a homozygous A to G nucleotide substitution ...
(Upper panel) Sequencing chromatograms from the affected individual II-1 and parent I-1 from the fam...
*<p>Whole exome sequencing of genomic DNA from two <i>P43</i> mutants was performed. All mutations (...
<p>Changes also seen in the father are shown on the left, while those inherited from the mother are ...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and parent I-1 from family-...
<p>DNA sequencing chromatograms of representative heterozygous <i>IDH1</i> mutations and reference w...
<p>In Family A, male patients show c.947A>G transition that is predicted to result in a p.D316G subs...
<p>The heterozygous C to T transition generated a stop codon TGA, in which the mutant T peak was low...