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PMID: 24685681
Edelman A
Cytoskeleton and CFTR.
Int J Biochem Cell Biol. 2014 Jul;52:68-72. doi: 10.1016/j.biocel.2014.03.018. Epub 2014 Mar 28.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
872
ABCC7 p.Trp19Cys
X
ABCC7 p.Trp19Cys 24685681:872:56
status:
NEW
view ABCC7 p.Trp19Cys details
ABCC7 p.Leu15Pro
X
ABCC7 p.Leu15Pro 24685681:872:47
status:
NEW
view ABCC7 p.Leu15Pro details
Importantly, two CF disease-causing mutations,
L15P
and
W19C
, disrupt the interaction between filamin A and CFTR (Playford et al., 2010).
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