<p>Filled symbols represent patients with TRAPS; open squares and circles indicate healthy individuals. No clinical information was available for individuals from generations I and II. A sequencing chromatogram showing the mutation identified in family members III.2, III.3, III.4, III.6, III.7, III.8, III.9, III.11, IV.2, and IV.3 is presented below. The sequence in healthy relatives (III.1, III.5, III.10, IV.1) is shown as a control. The heterozygous transition generating the missense mutation is encircled.</p
<p>Affected individuals are indicated with filled symbols and unaffected individuals are indicated w...
Sequencing chromatograms from the affected individual IV-1 and parent II-1. Arrows mark two differen...
<p>(A) A dynastic tree illustrating the relationship between mother, daughter, and granddaughter clo...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and the parent I-1 from fam...
<p>A. Structure of the two families that were selected for whole exome sequencing. The family number...
(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...
(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 II-2 and parent I-1 from family-...
(Upper panel) Sequencing chromatogram from the affected individual II-2 from family-123. Arrow marks...
<p>(A) Japanese family of MRX214 with Del 312F in <i>GPR37</i>. (B) Caucasian family of AU0654 with ...
<p><b>A:</b> Pedigree and disease-haplotype segregation of family A. Blackened symbols represent aff...
(Upper panel) Sequencing chromatogram of the affected individual IV-5 from family-128. Arrow marks t...
<p>(A) Schematic representation of the relative linear location of all four <i>MYO7A</i> mutations i...
(Upper panel) Sequencing chromatograms from the affected individual V-1 and parent IV-1 from family-...
<p>Affected individuals are indicated with filled symbols and unaffected individuals are indicated w...
Sequencing chromatograms from the affected individual IV-1 and parent II-1. Arrows mark two differen...
<p>(A) A dynastic tree illustrating the relationship between mother, daughter, and granddaughter clo...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and the parent I-1 from fam...
<p>A. Structure of the two families that were selected for whole exome sequencing. The family number...
(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...
(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 II-2 and parent I-1 from family-...
(Upper panel) Sequencing chromatogram from the affected individual II-2 from family-123. Arrow marks...
<p>(A) Japanese family of MRX214 with Del 312F in <i>GPR37</i>. (B) Caucasian family of AU0654 with ...
<p><b>A:</b> Pedigree and disease-haplotype segregation of family A. Blackened symbols represent aff...
(Upper panel) Sequencing chromatogram of the affected individual IV-5 from family-128. Arrow marks t...
<p>(A) Schematic representation of the relative linear location of all four <i>MYO7A</i> mutations i...
(Upper panel) Sequencing chromatograms from the affected individual V-1 and parent IV-1 from family-...
<p>Affected individuals are indicated with filled symbols and unaffected individuals are indicated w...
Sequencing chromatograms from the affected individual IV-1 and parent II-1. Arrows mark two differen...
<p>(A) A dynastic tree illustrating the relationship between mother, daughter, and granddaughter clo...