PMID: 16612392

Poschet JF, Fazio JA, Timmins GS, Ornatowski W, Perkett E, Delgado M, Deretic V
Endosomal hyperacidification in cystic fibrosis is due to defective nitric oxide-cylic GMP signalling cascade.
EMBO Rep. 2006 May;7(5):553-9. Epub 2006 Apr 13., [PubMed]
Sentences
No. Mutations Sentence Comment
25 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 16612392:25:202
status: NEW
view ABCC7 p.Trp1282* details
A pair of previously characterized (Egan et al, 1992), genetically matched CF and CFTR-corrected bronchial epithelial cell lines was used: IB3-1 (from a compound heterozygote CF patient with CFTR DF508/W1282X alleles) and S9 (IB3-1 cells corrected with a full-size functional CFTR complementary DNA). Login to comment