PMID: 25169789

Vreede CL, Berkhout MC, Sprij AJ, Fokkens WJ, Heijerman HG
Ivacaftor and sinonasal pathology in a cystic fibrosis patient with genotype deltaF508/S1215N.
J Cyst Fibros. 2015 May;14(3):412-3. doi: 10.1016/j.jcf.2014.07.013. Epub 2014 Aug 26., [PubMed]
Sentences
No. Mutations Sentence Comment
21 ABCC7 p.Ser1251Asn
X
ABCC7 p.Ser1251Asn 25169789:21:44
status: NEW
view ABCC7 p.Ser1251Asn details
 CF genotype showed a heterozygous deltaF508/S1251N mutation. Login to comment 29 ABCC7 p.Ser1251Asn
X
ABCC7 p.Ser1251Asn 25169789:29:4
status: NEW
view ABCC7 p.Ser1251Asn details
 The S1251N mutation is a class III mutation resulting in a defective CFTR protein on the apical membrane. Login to comment