<p>The sequence chromatogram (reverse strand) shows a heterozygous T>A transition which resulted in the substitution of glutamic acid by valine at codon 499. The black arrows show the wild-type (the controls) and mutant point (patient).</p
<p>cDNA analysis of PCR products resulting from the amplification of cDNA from subjects harboring th...
<p>Representative chromatograms (left) and pyrograms (right) of GNAS wild-type, GNAS R201C, and GNAS...
<p>(A, B) Comparison of the sequence chromatograms of a compound heterozygous <i>GJB2</i> c.235delC ...
(Upper panel) Sequencing chromatograms from the affected individual IV-1 and the parent III-1 showin...
Sequencing chromatograms from the affected individual IV-1 and parent II-1. Arrows mark two differen...
(Upper panel) Sequencing chromatogram from the affected individual II-2 from family-123. Arrow marks...
(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-2 and parent I-1 from family-...
(Upper panel) Sequencing chromatogram of the affected individual IV-5 from family-128. Arrow marks t...
<p>Forward sequence analysis of exon 2 of MIP in the normal and affected members of this family. The...
(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-...
<p>a) Pedigree of the Family 74. Solid boxes and circles indicate affected individuals. The individu...
<p>(A) Result of the SNP array in patient 33 showing Heterozygous deletion at 6q21-q22.31 including ...
<p>293T cells were transfected with empty vector pEGFP-N1, pEGFP-HAS2 wild-type, and the E499V mutan...
<p>cDNA analysis of PCR products resulting from the amplification of cDNA from subjects harboring th...
<p>Representative chromatograms (left) and pyrograms (right) of GNAS wild-type, GNAS R201C, and GNAS...
<p>(A, B) Comparison of the sequence chromatograms of a compound heterozygous <i>GJB2</i> c.235delC ...
(Upper panel) Sequencing chromatograms from the affected individual IV-1 and the parent III-1 showin...
Sequencing chromatograms from the affected individual IV-1 and parent II-1. Arrows mark two differen...
(Upper panel) Sequencing chromatogram from the affected individual II-2 from family-123. Arrow marks...
(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-2 and parent I-1 from family-...
(Upper panel) Sequencing chromatogram of the affected individual IV-5 from family-128. Arrow marks t...
<p>Forward sequence analysis of exon 2 of MIP in the normal and affected members of this family. The...
(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-...
<p>a) Pedigree of the Family 74. Solid boxes and circles indicate affected individuals. The individu...
<p>(A) Result of the SNP array in patient 33 showing Heterozygous deletion at 6q21-q22.31 including ...
<p>293T cells were transfected with empty vector pEGFP-N1, pEGFP-HAS2 wild-type, and the E499V mutan...
<p>cDNA analysis of PCR products resulting from the amplification of cDNA from subjects harboring th...
<p>Representative chromatograms (left) and pyrograms (right) of GNAS wild-type, GNAS R201C, and GNAS...
<p>(A, B) Comparison of the sequence chromatograms of a compound heterozygous <i>GJB2</i> c.235delC ...
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