PMID: 18474670

Guimbellot JS, Fortenberry JA, Siegal GP, Moore B, Wen H, Venglarik C, Chen YF, Oparil S, Sorscher EJ, Hong JS
Role of oxygen availability in CFTR expression and function.
Am J Respir Cell Mol Biol. 2008 Nov;39(5):514-21. Epub 2008 May 12., [PubMed]
Sentences
No. Mutations Sentence Comment
234 ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 18474670:234:17
status: NEW
view ABCC7 p.Ala455Glu details
 For example, the A455E mutation results in marginally reduced function of CFTR and clinically mild pulmonary disease, a later age at diagnosis, and a substantially improved prognosis (37). Login to comment