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PMID: 10640318
Singh AK, Devor DC, Gerlach AC, Gondor M, Pilewski JM, Bridges RJ
Stimulation of Cl(-) secretion by chlorzoxazone.
J Pharmacol Exp Ther. 2000 Feb;292(2):778-87.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
95
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10640318:95:193
status:
NEW
view ABCC7 p.Gly551Asp details
Eight nonsmoking healthy subjects (six males, two females) with no history of respiratory disease, and five CF patients (four males, one female), four homozygous with ⌬F508 and one with
G551D
/ ⌬F508 mutations were studied.
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285
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10640318:285:13
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10640318:285:182
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10640318:285:183
status:
NEW
view ABCC7 p.Gly551Asp details
Although the
G551D
mutation does reach the plasma membrane, its channel function is significantly impaired and this may explain why we did not observe a Cl-secretory response in the
G551D/
⌬F508-CFTR CF patient.
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