PMID: 22495179

Wally V, Murauer EM, Bauer JW
Spliceosome-mediated trans-splicing: the therapeutic cut and paste.
J Invest Dermatol. 2012 Aug;132(8):1959-66. doi: 10.1038/jid.2012.101. Epub 2012 Apr 12., [PubMed]
Sentences
No. Mutations Sentence Comment
69 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 22495179:69:107
status: NEW
view ABCC7 p.Trp1282* details
 IB3-1 cells, which are compound heterozygous for the CFTR hotspot mutation delF508 and a nonsense mutation W1282X, were transduced with two RTMs delivering the 50 - and the 30 -halves of CFTR, the 50 - and 30 - donor and acceptor splice sites, respectively, and a hybridization domain. Login to comment