PMID: 17108316

Magenheimer BS, St John PL, Isom KS, Abrahamson DR, De Lisle RC, Wallace DP, Maser RL, Grantham JJ, Calvet JP
Early embryonic renal tubules of wild-type and polycystic kidney disease kidneys respond to cAMP stimulation with cystic fibrosis transmembrane conductance regulator/Na(+),K(+),2Cl(-) Co-transporter-dependent cystic dilation.
J Am Soc Nephrol. 2006 Dec;17(12):3424-37. Epub 2006 Nov 15., [PubMed]
Sentences
No. Mutations Sentence Comment
35 ABCC7 p.Ser489*
X
ABCC7 p.Ser489* 17108316:35:11
status: NEW
view ABCC7 p.Ser489* details
 Cftrm1UNC (S489X) mice produce no stable CFTR mRNA or protein and therefore are considered to have a null phenotype (32,33). Login to comment