PMID: 10915765

Nissim-Rafinia M, Chiba-Falek O, Sharon G, Boss A, Kerem B
Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations.
Hum Mol Genet. 2000 Jul 22;9(12):1771-8., 2000-07-22 [PubMed]
Sentences
No. Mutations Sentence Comment
13 ABCC7 p.Gln1291His
X
ABCC7 p.Gln1291His 10915765:13:134
status: NEW
view ABCC7 p.Gln1291His details
 Among these are mutations leading to inclusion of intronic sequences, such as 3849+10kb C→T (2), 1811+1.6kb A→G (3) and Q1291H (4), and mutations leading to the skipping of CFTR exons, such as 1898+5 G→T (5) and the polymorphic alleles at IVS8-Tn site (5T, 7T and 9T alleles) (6). Login to comment