PMID: 15472711

Nissim-Rafinia M, Aviram M, Randell SH, Shushi L, Ozeri E, Chiba-Falek O, Eidelman O, Pollard HB, Yankaskas JR, Kerem B
Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation.
EMBO Rep. 2004 Nov;5(11):1071-7., [PubMed]
Sentences
No. Mutations Sentence Comment
13 ABCC7 p.Gly576Ala
X
ABCC7 p.Gly576Ala 15472711:13:169
status: NEW
view ABCC7 p.Gly576Ala details
ABCC7 p.Asp565Gly
X
ABCC7 p.Asp565Gly 15472711:13:159
status: NEW
view ABCC7 p.Asp565Gly details
 The second group includes mutations that generate both aberrantly and correctly spliced transcripts (such as 3849 þ 10 kb C-T, 3272À26 A-G, IVS8-5T, D565G and G576A), the level of which varies among patients and among organs of the same patient (Ramalho et al, 2002; Pagani et al, 2003; reviewed in Nissim-Rafinia & Kerem, 2002). Login to comment 61 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 15472711:61:178
status: NEW
view ABCC7 p.Trp1282* details
 The analysis showed no forskolin-stimulated chloride efflux, indicating that the CFTR channels in these cells are inactive, as found in CFP22a cells (DF508/DF508) and IB3 cells (W1282X/DF508). Login to comment