PMID: 23185247

Valdivieso AG, Clauzure M, Marin MC, Taminelli GL, Massip Copiz MM, Sanchez F, Schulman G, Teiber ML, Santa-Coloma TA
The mitochondrial complex I activity is reduced in cells with impaired cystic fibrosis transmembrane conductance regulator (CFTR) function.
PLoS One. 2012;7(11):e48059. doi: 10.1371/journal.pone.0048059. Epub 2012 Nov 21., [PubMed]
Sentences
No. Mutations Sentence Comment
169 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 23185247:169:136
status: NEW
view ABCC7 p.Trp1282* details
 The IB3-1 cells were derived from a CF patient exhibiting the most frequent CF mutation (DF508) in one allele and a non-sense mutation (W1282X) in the other allele [39]. Login to comment