PMID: 18812833

Collaco JM, Cutting GR
Update on gene modifiers in cystic fibrosis.
Curr Opin Pulm Med. 2008 Nov;14(6):559-66., [PubMed]
Sentences
No. Mutations Sentence Comment
80 ABCC7 p.Glu264Val
X
ABCC7 p.Glu264Val 18812833:80:67
status: NEW
view ABCC7 p.Glu264Val details
 Three commonly studied mutations include the S mutation in exon 3 (Glu264Val or c2313T>A) and the Z mutation in exon 5 (Glu342Lys or c4627G>A), which result in reduced plasma levels of a1-antitrypsin, and þ1237G>A in the 30 -untranslated region, which may result in a decrease in acute phase levels [60]. Login to comment 118 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18812833:118:122
status: NEW
view ABCC7 p.Gly551Asp details
 As a similar example in CF, VX-770, which is in phase II trials as of early 2008, is being tested on individuals with the G551D mutation in CFTR. Login to comment