PMID: 24238947

Nshimyumukiza L, Bois A, Daigneault P, Lands L, Laberge AM, Fournier D, Duplantie J, Giguere Y, Gekas J, Gagne C, Rousseau F, Reinharz D
Cost effectiveness of newborn screening for cystic fibrosis: a simulation study.
J Cyst Fibros. 2014 May;13(3):267-74. doi: 10.1016/j.jcf.2013.10.012. Epub 2013 Nov 12., [PubMed]
Sentences
No. Mutations Sentence Comment
162 ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 24238947:162:17
status: NEW
view ABCC7 p.Ala455Glu details
For example, the A455E mutation is more common (around 3%) in Quebec [48] and has been reported as a false negative for PAP results. Login to comment