PMID: 22572733

Nakakuki M, Fujiki K, Yamamoto A, Ko SB, Yi L, Ishiguro M, Yamaguchi M, Kondo S, Maruyama S, Yanagimoto K, Naruse S, Ishiguro H
Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis.
J Hum Genet. 2012 Jul;57(7):427-33. doi: 10.1038/jhg.2012.46. Epub 2012 May 10., [PubMed]
Sentences
No. Mutations Sentence Comment
233 ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 22572733:233:18
status: NEW
view ABCC7 p.Arg553* details
 The stop mutation R553X in the CFTR gene results in exon skipping. Login to comment