PMID: 24183914

Guo JJ, Stoltz DA, Zhu V, Volk KA, Segar JL, McCray PB Jr, Roghair RD
Genotype-specific alterations in vascular smooth muscle cell function in cystic fibrosis piglets.
J Cyst Fibros. 2014 May;13(3):251-9. doi: 10.1016/j.jcf.2013.10.009. Epub 2013 Oct 31., [PubMed]
Sentences
No. Mutations Sentence Comment
12 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 24183914:12:44
status: NEW
view ABCC7 p.Gly542* details
 The second most common CF-causing mutation (G542X) prematurely terminates CFTR transcription [1]. Login to comment