ABCMdb

PMID: 22591852

Scott A, Petrykowska HM, Hefferon T, Gotea V, Elnitski L
Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.
J Cyst Fibros. 2012 Dec;11(6):511-7. doi: 10.1016/j.jcf.2012.04.009. Epub 2012 May 14., [PubMed]

Sentences

No. Mutations Sentence Comment

120 ABCC7 p.Trp1282* Evidence of altered splicing was identified in two of the five variants (variants 2 and 5; Fig. 2A), and results were replicated in IB3-1 cells (a mutant CFTR lung epithelial cell line with the CFTR genotype of D508/ W1282X) (Fig. 2B). Login to comment 121 ABCC7 p.Trp1282* Evidence of altered splicing was identified in two of the five variants (variants 2 and 5; Fig. 2A), and results were replicated in IB3-1 cells (a mutant CFTR lung epithelial cell line with the CFTR genotype of D508/ W1282X) (Fig. 2B). Login to comment