PMID: 18507830

Fajac I, Viel M, Sublemontier S, Hubert D, Bienvenu T
Could a defective epithelial sodium channel lead to bronchiectasis.
Respir Res. 2008 May 28;9:46., [PubMed]
Sentences
No. Mutations Sentence Comment
75 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 18507830:75:72
status: NEW
view ABCC7 p.Arg117His details
 In Group 2, 2 patients were heterozygous for the p.F508del, 2 for the p.R117H-7T mutation, 3 for the IVS8-5T allele, and 1 for the c.1717G>A (p.E528E) variant. Login to comment