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PMID: 9137558
Sheppard DN, Welsh MJ
Inhibition of the cystic fibrosis transmembrane conductance regulator by ATP-sensitive K+ channel regulators.
Ann N Y Acad Sci. 1993 Dec 20;707:275-84.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
68
ABCC7 p.Lys1250Met
X
ABCC7 p.Lys1250Met 9137558:68:163
status:
NEW
view ABCC7 p.Lys1250Met details
We studied CFTR-containing mutations that affect each of the three types of domains of CFTR: K3 35E, which contains a mutation in the sixth transmembrane segment;
K1250M
, which contains a mutation in the second NBD; and CFTRAR, where part of the R domain has been deleted (amino acids 708-835).
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