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PMID: 12426234
Devuyst O, Guggino WB
Chloride channels in the kidney: lessons learned from knockout animals.
Am J Physiol Renal Physiol. 2002 Dec;283(6):F1176-91.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
283
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12426234:283:87
status:
NEW
view ABCC7 p.Gly551Asp details
In one additional model, the glycine at position 551 has been changed to an aspartate (
G551D
) (39).
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284
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12426234:284:4
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12426234:284:87
status:
NEW
view ABCC7 p.Gly551Asp details
The
G551D
mutation is relatively common in patients with CF and results in a mutated CF
TR pr
otein that is processed normally but shows a significant reduction in cAMP-regulated Cl-channel activity (187).
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285
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12426234:285:4
status:
NEW
view ABCC7 p.Gly551Asp details
The
G551D
mutation is relatively common in patients with CF and results in a mutated CFTR protein that is processed normally but shows a significant reduction in cAMP-regulated Cl- channel activity (187).
Login to comment