PMID: 12612194

Mall M, Gonska T, Thomas J, Schreiber R, Seydewitz HH, Kuehr J, Brandis M, Kunzelmann K
Modulation of Ca2+-activated Cl- secretion by basolateral K+ channels in human normal and cystic fibrosis airway epithelia.
Pediatr Res. 2003 Apr;53(4):608-18. Epub 2003 Feb 5., [PubMed]
Sentences
No. Mutations Sentence Comment
32 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12612194:32:105
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 12612194:32:82
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 12612194:32:116
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12612194:32:98
status: NEW
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 CF patients were genotyped for the following common CFTR mutations: ⌬F508, R553X, N1303 K, G542X, G551D, and R347P. Login to comment 33 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12612194:33:131
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12612194:33:97
status: NEW
view ABCC7 p.Gly542* details
 The following genotypes were identified: ⌬F508/ ⌬F508 (n ϭ 15); ⌬F508/G542X (n ϭ 1); ⌬F508/G551D (n ϭ 1); ⌬F508/- (n ϭ 2); -/- (n ϭ 8) (- ϭ mutation not identified). Login to comment