PMID: 17707141

van Barneveld A, Stanke F, Claass A, Ballmann M, Tummler B
CFTR protein analysis of splice site mutation 2789+5 G-A.
J Cyst Fibros. 2008 Mar;7(2):165-7. Epub 2007 Aug 16., [PubMed]
Sentences
No. Mutations Sentence Comment
37 ABCC7 p.Glu92*
X
ABCC7 p.Glu92* 17707141:37:169
status: NEW
view ABCC7 p.Glu92* details
 The authors have examined nine individuals with CF at our clinic who are compound heterozygous for 2789+5 G-A and another PI CF allele (seven F508del, one 2043delG, one E92X [7]). Login to comment 63 ABCC7 p.Asp836*
X
ABCC7 p.Asp836* 17707141:63:44
status: NEW
view ABCC7 p.Asp836* details
 The recombinant N-terminal portion of CFTR (D836X) forms proper chloride channels in vitro [13], albeit the cooperation between the two non-equivalent NBDs in the binding and hydrolysis of nucleotides cannot take place [9]. Login to comment