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PMID: 12403872
Tate S, MacGregor G, Davis M, Innes JA, Greening AP
Airways in cystic fibrosis are acidified: detection by exhaled breath condensate.
Thorax. 2002 Nov;57(11):926-9.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
240
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12403872:240:315
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12403872:240:146
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 12403872:240:153
status:
NEW
view ABCC7 p.Ala455Glu details
Choi et al11 showed that cultured cells expressing CFTR mutations known to be associated with pancreatic sufficiency (class 4-5 mutations such as
R117H
,
A455E
) displayed significantly greater bicarbonate conductance than mutations associated with pancreatic insufficiency (class 1-3 mutations, G452X, ∆F508,
G551D
).
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