PMID: 25544989

Gonzalez-del Pozo M, Mendez-Vidal C, Bravo-Gil N, Vela-Boza A, Dopazo J, Borrego S, Antinolo G
Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.
PLoS One. 2014 Dec 29;9(12):e116176. doi: 10.1371/journal.pone.0116176. eCollection 2014., [PubMed]
Sentences
No. Mutations Sentence Comment
8 ABCA4 p.Arg681*
X
ABCA4 p.Arg681* 25544989:8:287
status: NEW
view ABCA4 p.Arg681* details
ABCA4 p.Arg2030*
X
ABCA4 p.Arg2030* 25544989:8:310
status: NEW
view ABCA4 p.Arg2030* details
 This strategy allowed the detection of: (i) one novel heterozygous splice-site deletion in RHO, c.937-2_944del, (ii) one rare homozygous mutation in C2orf71, c.1795T.C; p.Cys599Arg, not previously associated with the disease, (iii) two heterozygous null mutations in ABCA4, c.2041C.T; p.R681* and c.6088C.T; p.R2030*, and (iv) one mutation, c.2405-2406delAG; p.Glu802Glyfs*31 in the ORF15 of RPGR. Login to comment