PMID: 11530206

Glick MC, Kothari VA, Liu A, Stoykova LI, Scanlin TF
Activity of fucosyltransferases and altered glycosylation in cystic fibrosis airway epithelial cells.
Biochimie. 2001 Aug;83(8):743-7., [PubMed]
Sentences
No. Mutations Sentence Comment
103 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11530206:103:105
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 11530206:103:22
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