PMID: 10571016

Scanlin TF, Glick MC
Terminal glycosylation in cystic fibrosis.
Biochim Biophys Acta. 1999 Oct 8;1455(2-3):241-53., [PubMed]
Sentences
No. Mutations Sentence Comment
650 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10571016:650:105
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10571016:650:22
status: NEW
view ABCC7 p.Gly542* details
 Some mutations (e.g., G542X) produce a truncated transcript and no protein, while other mutations (e.g., R117H) produce a protein that has impaired conduction properties. Login to comment