4 research outputs found
Age at end-stage renal failure and severity of mutations with <i>COL4A5</i>, <i>COL4A3</i> and <i>COL4A4</i> variants.
<p>Age at end-stage renal failure and severity of mutations with <i>COL4A5</i>, <i>COL4A3</i> and <i>COL4A4</i> variants.</p
Common Founder mutations in the <i>COL4A5</i>, <i>COL4A3</i> and <i>COL4A4</i> genes.
<p>Common Founder mutations in the <i>COL4A5</i>, <i>COL4A3</i> and <i>COL4A4</i> genes.</p
Distribution of missense variants in the <i>COL4A5</i> gene in each exon corrected for exon size and demonstrating a non-uniform distribution.
<p>Distribution of missense variants in the <i>COL4A5</i> gene in each exon corrected for exon size and demonstrating a non-uniform distribution.</p
Observed versus expected likelihood of Glycine substitutions in the <i>COL4A5</i>, <i>COL4A3</i> and <i>COL4A4</i> genes in Alport syndrome and Thin basement membrane nephropathy.
<p>Observed number from the LOVD databases; expected number derived from data for collagen I [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0161802#pone.0161802.ref020" target="_blank">20</a>].</p