PMID: 17021906

Constable PA, Lawrenson JG, Arden GB
Light and alcohol evoked electro-oculograms in cystic fibrosis.
Doc Ophthalmol. 2006 Sep;113(2):133-43. Epub 2006 Oct 5., [PubMed]
Sentences
No. Mutations Sentence Comment
204 ABCC7 p.Arg553Gln
X
ABCC7 p.Arg553Gln 17021906:204:35
status: NEW
view ABCC7 p.Arg553Gln details
 In D508, the accompanying mutation R553Q confers stability to the protein so that it retains function by improving the folding and trafficking of CFTR to the plasma membrane [60]. Login to comment