PMID: 12651858

Benharouga M, Sharma M, So J, Haardt M, Drzymala L, Popov M, Schwapach B, Grinstein S, Du K, Lukacs GL
The role of the C terminus and Na+/H+ exchanger regulatory factor in the functional expression of cystic fibrosis transmembrane conductance regulator in nonpolarized cells and epithelia.
J Biol Chem. 2003 Jun 13;278(24):22079-89. Epub 2003 Mar 21., 2003-06-13 [PubMed]
Sentences
No. Mutations Sentence Comment
2 ABCC7 p.Ser1455*
X
ABCC7 p.Ser1455* 12651858:2:71
status: NEW
view ABCC7 p.Ser1455* details
 Individuals with mutations resulting in premature termination of CFTR (S1455X or ⌬26 CFTR) have moderately elevated sweat Cl-concentration, without an obvious lung and pancreatic phenotype, implying that the CFTR function is largely preserved. Login to comment