PMID: 26168933

Grasemann H, Gonska T, Avolio J, Klingel M, Tullis E, Ratjen F
Effect of ivacaftor therapy on exhaled nitric oxide in patients with cystic fibrosis.
J Cyst Fibros. 2015 Nov;14(6):727-32. doi: 10.1016/j.jcf.2015.07.001. Epub 2015 Jul 11., [PubMed]
Sentences
No. Mutations Sentence Comment
25 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 26168933:25:143
status: NEW
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 Recently, ivacaftor, has been approved as the first CFTR-targeting drug for treatment in people with CF and certain gating mutations, of which G551D is the most frequent [14,15]. Login to comment 59 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 26168933:59:160
status: NEW
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ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 26168933:59:181
status: NEW
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ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 26168933:59:203
status: NEW
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ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 26168933:59:225
status: NEW
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ABCC7 p.Glu585*
X
ABCC7 p.Glu585* 26168933:59:231
status: NEW
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ABCC7 p.Gly178Arg
X
ABCC7 p.Gly178Arg 26168933:59:243
status: NEW
view ABCC7 p.Gly178Arg details
 Total (n = 15) Adult (n = 8) Pediatric (n = 7) Age (years), mean &#b1; SD 23.3 &#b1; 16.2 36.3 &#b1; 14.6 10.7 &#b1; 3.8 Female/male 9/6 5/3 4/3 CFTR genotypes G551D/F508del 10 4 6 G551D/not found 2 2 - G551D/2622+1GNA 1 - 1 G551D/E585X 1 1 - G178R/F508del 1 1 - CFTR, cystic fibrosis conductance regulator; SD, standard deviation. Login to comment