PMID: 19910374

Haque A, Buratti E, Baralle FE
Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12.
Nucleic Acids Res. 2010 Jan;38(2):647-59. Epub 2009 Nov 12., [PubMed]
Sentences
No. Mutations Sentence Comment
137 ABCC7 p.Gly576Ala
X
ABCC7 p.Gly576Ala 19910374:137:116
status: NEW
view ABCC7 p.Gly576Ala details
ABCC7 p.Tyr577Phe
X
ABCC7 p.Tyr577Phe 19910374:137:131
status: NEW
view ABCC7 p.Tyr577Phe details
 Western blot analysis of recovered proteins after pulldown of two naturally occurring nonsense CFTR mutations (G48C/G576A and A51T/Y577F) compared with CFTR Ex. 12 wild type. Login to comment