ABCMdb

PMID: 7475569

Dork T, Stuhrmann M
Severity of disease in cystic fibrosis.
Lancet. 1995 Oct 14;346(8981):1036-7., [PubMed]

Sentences

No. Mutations Sentence Comment

47 ABCC7 p.Arg668Cys "We found that two of our patients carry an additional sequence substitution, R668C in exon 13 of the CFTR gene, in association with 3849+10 kb C->T on the same allele. Login to comment 48 ABCC7 p.Arg668Cys Since missense mutation R668C also occurs in CBAVD patients,` it may lead to more severe disease in 3849+10 kb C-7 T patients with the double mutant allele, through further impairment of residual CFTR function resulting from normally spliced transcript. Login to comment 55 ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg1162* Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849+10 kb C→T provide evidence of mutation recurrence in the CFTR gene. Login to comment 56 ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg1162* Pediatr Pulmonol 1994; 10 (suppl): 215. 4 Morral N, Llevadot R, Casals T, et al. Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849+10 kb C→T provide evidence of mutation recurrence in the CFTR gene. Login to comment