<p>The pedigrees and automated sequencing traces of the <i>WISP3</i> gene mutations in the two families in our study.</p
(Upper panel) Sequencing chromatograms from the affected individual IV-1 and the parent III-1 showin...
<p>Automated DNA sequencing of the ML1527056 locus from A.Sk19. B.Reference strain NHDP63 and C.Sk14...
Background: In the course of our whole-genome sequencing efforts, we have developed a pipeline for a...
*<p>Nucleotide numbers refer to genomic DNA and are numbered from the transcription start site. Amin...
Well curated human pedigrees like the iconic pedigrees maintained by the Centre d'Etude du Polymorph...
<p>Arrows show the probands in each family. Genetic findings for each individual tested are noted in...
<p>Missense mutations and the resultant phenotypes observed in the families described in the present...
<p>(A) Schematic representation of the relative linear location of all four <i>MYO7A</i> mutations i...
<p>Pedigrees of family FAM07 showing chromatograms where the de novo Novel mutation event occurred f...
We analyzed the whole genome sequences of a family of four, consisting of two siblings and their par...
(Upper panel) Sequencing chromatogram from the affected individual II-2 from family-123. Arrow marks...
<p>The family number and their causative gene were just noted above the pedigree. The mutations of a...
<p>(A) Pedigree of family 2 is indicated. Black and open symbols denote affected and unaffected indi...
The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive genetic disease in which the molecu-lar ...
<p>Pedigrees and Sanger sequencing electropherograms demonstrating mutations found in TNGS in the pr...
(Upper panel) Sequencing chromatograms from the affected individual IV-1 and the parent III-1 showin...
<p>Automated DNA sequencing of the ML1527056 locus from A.Sk19. B.Reference strain NHDP63 and C.Sk14...
Background: In the course of our whole-genome sequencing efforts, we have developed a pipeline for a...
*<p>Nucleotide numbers refer to genomic DNA and are numbered from the transcription start site. Amin...
Well curated human pedigrees like the iconic pedigrees maintained by the Centre d'Etude du Polymorph...
<p>Arrows show the probands in each family. Genetic findings for each individual tested are noted in...
<p>Missense mutations and the resultant phenotypes observed in the families described in the present...
<p>(A) Schematic representation of the relative linear location of all four <i>MYO7A</i> mutations i...
<p>Pedigrees of family FAM07 showing chromatograms where the de novo Novel mutation event occurred f...
We analyzed the whole genome sequences of a family of four, consisting of two siblings and their par...
(Upper panel) Sequencing chromatogram from the affected individual II-2 from family-123. Arrow marks...
<p>The family number and their causative gene were just noted above the pedigree. The mutations of a...
<p>(A) Pedigree of family 2 is indicated. Black and open symbols denote affected and unaffected indi...
The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive genetic disease in which the molecu-lar ...
<p>Pedigrees and Sanger sequencing electropherograms demonstrating mutations found in TNGS in the pr...
(Upper panel) Sequencing chromatograms from the affected individual IV-1 and the parent III-1 showin...
<p>Automated DNA sequencing of the ML1527056 locus from A.Sk19. B.Reference strain NHDP63 and C.Sk14...
Background: In the course of our whole-genome sequencing efforts, we have developed a pipeline for a...
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