6 research outputs found
Pedigrees of the four Tunisian families analyzed using the whole exome sequencing strategy.
<p>Pedigrees of the four Tunisian families analyzed using the whole exome sequencing strategy.</p
Evolution of the number of variants during whole exome.
<p>Evolution of the number of variants during whole exome.</p
Biallelic mutations identified in DFNB genes using a whole exome sequencing strategy.
<p>Biallelic mutations identified in DFNB genes using a whole exome sequencing strategy.</p
Sequences of the primers used to validate the mutations by Sanger sequencing.
<p>Sequences of the primers used to validate the mutations by Sanger sequencing.</p
Relative luciferase units (RLU) of the wildtype androgen receptor (WT) and D551H protein and their curves of concentration-response.
<p>The D551H mutation significantly reduces the transactivation at DHT concentrations between 0.01 and 10 nM. T-test including equal variance test and was performed using Sigma Stat. *: p = 0.38 ; **: p<0.001.</p
Homology study showed that this amino acid was highly conserved through species for the c.1651G>C mutation.
<p>Homology study showed that this amino acid was highly conserved through species for the c.1651G>C mutation.</p