PMID: 9511927

Ko YH, Pedersen PL
Frontiers in research on cystic fibrosis: understanding its molecular and chemical basis and relationship to the pathogenesis of the disease.
J Bioenerg Biomembr. 1997 Oct;29(5):417-27., [PubMed]
Sentences
No. Mutations Sentence Comment
93 ABCC7 p.Glu504Gln
X
ABCC7 p.Glu504Gln 9511927:93:149
status: NEW
view ABCC7 p.Glu504Gln details
 Consistent with the predicted functional importance of E504 as a catalytic base (see Discussion above), it will be noted that the inherited mutation E504Q also causes cystic fibrosis. Login to comment