Table 2 of García-García, Mol Vis 2014; 20:1398-1410.

Table 2. Summary of USH2A deletions identified in our cohort of patients.

Family Patient Allele 1 Allele 2 Daignosis References
FRP-429§ RP-1696/RP-1697 del ex 9–14* del ex 9–14* USH2 *Bernal et al. (2005) [37]
FRP-404 RP-1622 del ex 14 del ex 14 USH2
FRP-298 RP-838 del ex 5–13 del ex 5–13 USH2
FRP-323 RP-1397 c.8167C>T/p.R2723X del ex 1–4 USH2
FRP-413 RP-1637/RP-1638 c.5540dupA/p.N1848EfsX20* del ex 5–9 USH2 *García-García et al. (2011) [30]
FRP-423# RP-1678/RP-1679 c.2276G>T/p.C759F* del ex 22–29 ARRP *Avila-Fernandez et al. (2010) [35]

§In the work by Bernal et al., (2005) [37] this family corresponds to Ush-148. #In the paper by Avila-Fernandez et al. (2010) [35] this family corresponds to RP-1016. Novel deletions identified in this report are in bold.

García-García, Mol Vis 2014; 20:1398-1410. http://www.molvis.org/molvis/v20/1398

©2014 Molecular Vision http://www.molvis.org/molvis/

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