ABCMdb

PMID: 21837768

Lukowski SW, Bombieri C, Trezise AE
Disrupted post-transcriptional regulation of the cystic fibrosis transmembrane conductance regulator (CFTR) by a 5'UTR mutation is associated with a CFTR-related disease.
Hum Mutat. 2011 Oct;32(10):E2266-82. doi: 10.1002/humu.21545., [PubMed]

Sentences

No. Mutations Sentence Comment

265 ABCC7 p.Arg117His ABCC7 p.Arg75Gln Also, heterozygosity for other CFTR mutations, such as ∆F508, R117H and R75Q, has been linked to the development of CBAVD and bronchiectasis [Wilschanski, et al., 2006; Ziedalski, et al., 2006]. Login to comment