PMID: 7678968

McGrath SA, Basu A, Zeitlin PL
Cystic fibrosis gene and protein expression during fetal lung development.
Am J Respir Cell Mol Biol. 1993 Feb;8(2):201-8., [PubMed]
Sentences
No. Mutations Sentence Comment
294 ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 7678968:294:115
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Trp1316*
X
ABCC7 p.Trp1316* 7678968:294:125
status: NEW
view ABCC7 p.Trp1316* details
 Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. Login to comment