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. 2014 Sep 25;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.