PMID: 19759008

Faa V, Incani F, Meloni A, Corda D, Masala M, Baffico AM, Seia M, Cao A, Rosatelli MC
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
J Biol Chem. 2009 Oct 30;284(44):30024-31. Epub 2009 Sep 15., 2009-10-30 [PubMed]
Sentences
No. Mutations Sentence Comment
39 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 19759008:39:59
status: NEW
view ABCC7 p.Gly542* details
 The CF genotype of the three patients was F508del/unknown, G542X/unknown, and exon 2 deletion (c.545811_164ϩ2186del8108ins182)/unknown (18). Login to comment