ABCMdb

PMID: 21594797

Schmidt A, Mendoza JL, Thomas PJ
Biochemical and biophysical approaches to probe CFTR structure.
Methods Mol Biol. 2011;741:365-76., [PubMed]

Sentences

No. Mutations Sentence Comment

29 ABCC7 p.Arg553Gln A single mutation, R553Q, was first identified in a patient, homozygous for the F508del allele, but having only a mild CF phenotype (20, 21). Login to comment 30 ABCC7 p.Arg553Gln ABCC7 p.Arg553Gln ABCC7 p.Ile539Thr ABCC7 p.Gly550Glu ABCC7 p.Arg555Lys Subsequently, in a screen for suppressor mutations of the F508del defect, the original R553Q suppressor mutation was identified as were I539T, G550E, R553Q, and R555K (18, 19). Login to comment