<p>The heterozygous C to T transition generated a stop codon TGA, in which the mutant T peak was lower in height than the wild type C peak in DNA from blood, whereas in DNA from tumor the mutant T and wild type C peaks were similar suggesting a mosaic mutation.</p
<p>P1 harbors a maternally inherited c.424C>T mutation, resulting in a premature stop codon. <b>A.</...
<p>Sequencing (forward and reverse) of the heterozygous c.556C>T variant in the germline sample, and...
<p><b>A</b>, Characterization at the base-pair level of an acquired unbalanced translocation der(4)t...
<p>(A) Genomic DNA sequencing of exon 5 in the <i>BBS5</i> gene showed a C>T transition at the codon...
<p><b>A</b>: Normal Sequence from control. <b>B</b>: Sequence from unaffected parents showing the c....
<p>A, Direct sequencing consequences of RT-PCR products from PHEO tissue of III-12 indicated a heter...
<p><b>A</b>, identification of a region on chr 5q13 spanning approximately 40 Mb (from 67, 7 Mb (rs8...
<p>(a) Sequencing of exon 6 (<i>CCM1</i> gene), which shows the A>G transition at position 842. (b) ...
5 pages, 2 figures.We report the presence of a hemizygous inactivating germ-line RB1 mutation (a rec...
<p><b>A</b>: Normal Sequence from control and unaffected father. <b>B</b>: Sequence from patient 19 ...
<p>Figures represent the sequencing chromatograms from controls (upper panels) and patients (lower p...
(Upper panel) Sequencing chromatograms from the affected individual IV-1 and the parent III-1 showin...
<p>Sequencing electropherogram of exon 2 of the TTR gene shows a heterozygous C/A mutation at positi...
<p>Migration patterns under non-denaturing conditions of single stranded fragments of exon 15 of the...
We have investigated the involvement of the p53 and RB1 tumor-suppressor genes in 26 cases of chroni...
<p>P1 harbors a maternally inherited c.424C>T mutation, resulting in a premature stop codon. <b>A.</...
<p>Sequencing (forward and reverse) of the heterozygous c.556C>T variant in the germline sample, and...
<p><b>A</b>, Characterization at the base-pair level of an acquired unbalanced translocation der(4)t...
<p>(A) Genomic DNA sequencing of exon 5 in the <i>BBS5</i> gene showed a C>T transition at the codon...
<p><b>A</b>: Normal Sequence from control. <b>B</b>: Sequence from unaffected parents showing the c....
<p>A, Direct sequencing consequences of RT-PCR products from PHEO tissue of III-12 indicated a heter...
<p><b>A</b>, identification of a region on chr 5q13 spanning approximately 40 Mb (from 67, 7 Mb (rs8...
<p>(a) Sequencing of exon 6 (<i>CCM1</i> gene), which shows the A>G transition at position 842. (b) ...
5 pages, 2 figures.We report the presence of a hemizygous inactivating germ-line RB1 mutation (a rec...
<p><b>A</b>: Normal Sequence from control and unaffected father. <b>B</b>: Sequence from patient 19 ...
<p>Figures represent the sequencing chromatograms from controls (upper panels) and patients (lower p...
(Upper panel) Sequencing chromatograms from the affected individual IV-1 and the parent III-1 showin...
<p>Sequencing electropherogram of exon 2 of the TTR gene shows a heterozygous C/A mutation at positi...
<p>Migration patterns under non-denaturing conditions of single stranded fragments of exon 15 of the...
We have investigated the involvement of the p53 and RB1 tumor-suppressor genes in 26 cases of chroni...
<p>P1 harbors a maternally inherited c.424C>T mutation, resulting in a premature stop codon. <b>A.</...
<p>Sequencing (forward and reverse) of the heterozygous c.556C>T variant in the germline sample, and...
<p><b>A</b>, Characterization at the base-pair level of an acquired unbalanced translocation der(4)t...
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