Frequent variants pre-screened in 28 LCA families.

<p>^#In original description [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0119806#pone.0119806.ref064" target="_blank">64</a>] this variant erroneously was indicated as c.3101T>C.</p><p>^$In lymphoblast cells, 50% of the resulting mRNA contains a cryptic exon resulting in a predicted stop mutation and 50% of the mRNA is normal [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0119806#pone.0119806.ref028" target="_blank">28</a>].</p><p>Frequent variants pre-screened in 28 LCA families.</p

Results of targeted Sanger sequencing and genetic analyses of 13 IRD families.

<p>Hz, Homozygous; Mb, Megabases; SS, Sanger sequencing entire gene; TSS, targeted Sanger sequencing; DNA, Deoxyribonucleic acid.</p><p>Results of targeted Sanger sequencing and genetic analyses of 13 IRD families.</p

Pedigree structure and segregation analysis of disease causing variants in the IRD cohort.

<p>Arrows point to the probands.</p