PMID: 18324337

Rogers CS, Hao Y, Rokhlina T, Samuel M, Stoltz DA, Li Y, Petroff E, Vermeer DW, Kabel AC, Yan Z, Spate L, Wax D, Murphy CN, Rieke A, Whitworth K, Linville ML, Korte SW, Engelhardt JF, Welsh MJ, Prather RS
Production of CFTR-null and CFTR-DeltaF508 heterozygous pigs by adeno-associated virus-mediated gene targeting and somatic cell nuclear transfer.
J Clin Invest. 2008 Apr;118(4):1571-7., [PubMed]
Sentences
No. Mutations Sentence Comment
73 ABCC7 p.Phe508*
X
ABCC7 p.Phe508* 18324337:73:11
status: NEW
view ABCC7 p.Phe508* details
 Therefore, F508X would be expected to trigger nonsense-mediated mRNA decay as well as prematurely interrupt any translation of CFTR. Login to comment