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PMID: 11404246
Choo-Kang LR, Zeitlin PL
Induction of HSP70 promotes DeltaF508 CFTR trafficking.
Am J Physiol Lung Cell Mol Physiol. 2001 Jul;281(1):L58-68.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
109
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 11404246:109:41
status:
NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 11404246:109:97
status:
NEW
view ABCC7 p.Trp1282* details
IB3-1 has the CFTR genotype ⌬F508/
W1282X
but expresses only ⌬F508 CFTR because the
W1282X
mutation produces an unstable, and therefore untranslated, mRNA (27, 28).
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281
ABCC7 p.Pro574His
X
ABCC7 p.Pro574His 11404246:281:106
status:
NEW
view ABCC7 p.Pro574His details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 11404246:281:98
status:
NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly480Cys
X
ABCC7 p.Gly480Cys 11404246:281:116
status:
NEW
view ABCC7 p.Gly480Cys details
Whether this approach would also overcome the defects caused by other trafficking mutants such as
N1303K
,
P574H
, or
G480C
remains to be tested.
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