ABCMdb

PMID: 21663921

Norek A, Stremska M, Sobczynska-Tomaszewska A, Wertheim-Tysarowska K, Dmenska H, Jurek M
Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype.
J Pediatr. 2011 Aug;159(2):343-6.e1. Epub 2011 Jun 12., [PubMed]

Sentences

No. Mutations Sentence Comment

76 ABCC7 p.Arg1066His ABCC7 p.Arg851* ABCC7 p.Leu1065Arg There have been 3 published cases of de novo mutations in CFTR gene to date: c.3197G>A (R1066H),2 c.2551C>T (R851X),3 and c.3194T>G (L1065R).4 All of them are point mutations situated at the mutational hot spot regions. Login to comment 99 ABCC7 p.Arg1066His Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis. Login to comment