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PMID: 10933904
Zeitlin PL
Cystic fibrosis gene therapy trials and tribulations.
Mol Ther. 2000 Jan;1(1):5-6.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
20
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10933904:20:96
status:
NEW
view ABCC7 p.Trp1282* details
Pharmacologic correction of premature-translation termination stop codon mutants in CFTR (e.g.,
W1282X
) by topical treatment with aminoglycosides to promote readthrough to a full-length CFTR has been reported to accomplish a change of 0 to -10 mV (8).
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