<p>In Family A, male patients show c.947A>G transition that is predicted to result in a p.D316G substitution in EDA and female carriers have A/G heterozygosity at the same position. In Family B, male patients show c.1013C>T transition that is predicted to result in a p.T338M substitution in EDA and female carriers are C/T heterozygous at the same position. Patient: male patients (hemizygous), carrier: female carriers (heterozygous), normal: normal individuals (no mutation).</p
Right side of figure shows substituted nucleotides in chromatograms. A) A heterozygous variant c.457...
<p>(A) Schematic representation of the relative linear location of all four <i>MYO7A</i> mutations i...
<p>Sequence chromatograms of A) Unaffected individual 15 homozygous for wild-type allele; B) unaffec...
(Upper panel) Sequencing chromatograms from the affected individual IV-1 and the parent III-1 showin...
(Upper panel) Sequencing chromatograms from the affected individual II-1 and parent I-1 from the fam...
(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...
<p>(a) – (e): Sequence Chromatogram of mutations Fig. 1a: c. 340 G>A (p.E114K)(homozygous); Fig. 1b:...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and the parent I-1 from fam...
Sequencing chromatograms from the affected individual IV-1 and parent II-1. Arrows mark two differen...
(Upper panel) Sequencing chromatograms from the affected individual V-1 and parent IV-1 from family-...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and parent I-1 from family-...
Sequencing chromatograms demonstrating the homozygous wild type, hetrozygous and homozygous mutant g...
<p>(A, B) Comparison of the sequence chromatograms of a compound heterozygous <i>GJB2</i> c.235delC ...
<p>Below the individuals, genotypes are presented for either p.S1653KfsX2 (M1), p.L2784R (M2), p.Y29...
Right side of figure shows substituted nucleotides in chromatograms. A) A heterozygous variant c.457...
<p>(A) Schematic representation of the relative linear location of all four <i>MYO7A</i> mutations i...
<p>Sequence chromatograms of A) Unaffected individual 15 homozygous for wild-type allele; B) unaffec...
(Upper panel) Sequencing chromatograms from the affected individual IV-1 and the parent III-1 showin...
(Upper panel) Sequencing chromatograms from the affected individual II-1 and parent I-1 from the fam...
(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...
<p>(a) – (e): Sequence Chromatogram of mutations Fig. 1a: c. 340 G>A (p.E114K)(homozygous); Fig. 1b:...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and the parent I-1 from fam...
Sequencing chromatograms from the affected individual IV-1 and parent II-1. Arrows mark two differen...
(Upper panel) Sequencing chromatograms from the affected individual V-1 and parent IV-1 from family-...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and parent I-1 from family-...
Sequencing chromatograms demonstrating the homozygous wild type, hetrozygous and homozygous mutant g...
<p>(A, B) Comparison of the sequence chromatograms of a compound heterozygous <i>GJB2</i> c.235delC ...
<p>Below the individuals, genotypes are presented for either p.S1653KfsX2 (M1), p.L2784R (M2), p.Y29...
Right side of figure shows substituted nucleotides in chromatograms. A) A heterozygous variant c.457...
<p>(A) Schematic representation of the relative linear location of all four <i>MYO7A</i> mutations i...
<p>Sequence chromatograms of A) Unaffected individual 15 homozygous for wild-type allele; B) unaffec...