PMID: 25046381

Ettorre M, Verze G, Caldrer S, Johansson J, Calcaterra E, Assael BM, Melotti P, Sorio C, Buffelli M
Electrophysiological evaluation of cystic fibrosis conductance transmembrane regulator (CFTR) expression in human monocytes.
Biochim Biophys Acta. 2014 Oct;1840(10):3088-95. doi: 10.1016/j.bbagen.2014.07.010. Epub 2014 Jul 18., [PubMed]
Sentences
No. Mutations Sentence Comment
66 ABCC7 p.Gln353*
X
ABCC7 p.Gln353* 25046381:66:121
status: NEW
view ABCC7 p.Gln353* details
 Subject number Gender Genotype Age (years) 0948 F F508del/4382delA 51 0952 F F508del/1717-1G ࢐ A 24 0961 M F508del/Q353X 32 0986 M F508del/1717-1G ࢐ A 31 Table 2 CF patients whose monocytes were exposed ex vivo to Vertex-325. Login to comment