PMID: 21983161

Spicuzza L, Sciuto C, Di Dio L, Mattina T, Leonardi S, del Giudice MM, La Rosa M
Mild cystic fibrosis in patients with the rare P5L CFTR mutation.
J Cyst Fibros. 2012 Jan;11(1):30-3. Epub 2011 Oct 7., [PubMed]
Sentences
No. Mutations Sentence Comment
4 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 21983161:4:71
status: NEW
view ABCC7 p.Trp1282* details
 The P5L variant was associated with ΔF508 in 5 patients and with W1282X in two patients. Login to comment 57 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 21983161:57:95
status: NEW
view ABCC7 p.Trp1282* details
 Five patients also carried the ΔF508 mutation in the second allele while two carried the W1282X mutation. Login to comment