PMID: 7494407

Dorin JR
Development of mouse models for cystic fibrosis.
J Inherit Metab Dis. 1995;18(4):495-500., [PubMed]
Sentences
No. Mutations Sentence Comment
81 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 7494407:81:95
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 7494407:81:85
status: NEW
view ABCC7 p.Arg347Pro details
 Sheppard and colleagues (1993) report that the cAMP-mediated 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 82 ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 7494407:82:20
status: NEW
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 Individuals who are R347P/AF508 or Rll7H/AF508 compound heterozygotes are therefore predicted to retain approximately 15% or 7.5% of normal CFTR function, respectively. Login to comment