PMID: 19381016

Choi JY, Khansaheb M, Joo NS, Krouse ME, Robbins RC, Weill D, Wine JJ
Substance P stimulates human airway submucosal gland secretion mainly via a CFTR-dependent process.
J Clin Invest. 2009 May;119(5):1189-200. doi: 10.1172/JCI37284. Epub 2009 Apr 20., [PubMed]
Sentences
No. Mutations Sentence Comment
279 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 19381016:279:141
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 19381016:279:127
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 19381016:279:135
status: NEW
view ABCC7 p.Gly542* details
 Genotypes were available for 8 of the CF subjects; 5 were ΔF508 homozygous, with 1 of each of the following: ΔF508/N1303K, G542X/W1282X, and 406-1 G->A/H119Y. Login to comment