PMID: 20696241

van Barneveld A, Stanke F, Tamm S, Siebert B, Brandes G, Derichs N, Ballmann M, Junge S, Tummler B
Functional analysis of F508del CFTR in native human colon.
Biochim Biophys Acta. 2010 Nov;1802(11):1062-9. Epub 2010 Aug 7., [PubMed]
Sentences
No. Mutations Sentence Comment
33 ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 20696241:33:66
status: NEW
view ABCC7 p.Arg553* details
 Subjects and volunteers Twenty F508del homozygous (Table S1), one R553X homozygous and one CFTRdele2,3 (21 kb) homozygous CF subjects were examined. Login to comment 113 ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 20696241:113:46
status: NEW
view ABCC7 p.Arg553* details
 The two homozygotes for the nonsense mutation R553X or the large out-of-frame deletion CFTRdele2,3(21 kb) in the CFTR gene were expected to express no functional CFTR. Login to comment