ABCMdb

PMID: 7949729

Dorin JR, Stevenson BJ, Fleming S, Alton EW, Dickinson P, Porteous DJ
Long-term survival of the exon 10 insertional cystic fibrosis mutant mouse is a consequence of low level residual wild-type Cftr gene expression.
Mamm Genome. 1994 Aug;5(8):465-72., [PubMed]

Sentences

No. Mutations Sentence Comment

174 ABCC7 p.Arg117His ABCC7 p.Arg347Pro Sheppard and associates (1993) report that the chloride conductance of R347P and R117H mutant constructs in the vaccinia virus T7 hybrid expression system are approximately 30% and 15% of wild-type values respectively. Login to comment 175 ABCC7 p.Arg117His ABCC7 p.Arg347Pro Individuals who are R347P/AF508 or R117H/AF508 compound heterozygotes are therefore predicted to retain approximately 15% or 7.5% of normal CFTR function. Login to comment