Article
Unusually common cystic fibrosis mutation in Portugal encodes a misprocessed protein.
Biochemical and biophysical research communications - 21 Nov 2003
Mendes Filipa, Roxo Rosa Mónica, Dragomir Anca, Farinha Carlos M, Roomans Godfried M, Amaral Margarida D, Penque Deborah
Abstract excerpt
A561E, a novel cystic fibrosis (CF) associated mutation in the first nucleotide binding domain of CFTR, is the second most common CF mutation in Portugal. Properties of the A561E-CFTR protein were studied by immunoblotting, pulse-chase, immunocytochemistry, and MQAE halide-efflux assay in stably transfected BHK cells. Altogether, results presented here suggest that A561E causes protein mislocalization in the...
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