PMID: 7507247

Clarke LL, Grubb BR, Yankaskas JR, Cotton CU, McKenzie A, Boucher RC
Relationship of a non-cystic fibrosis transmembrane conductance regulator-mediated chloride conductance to organ-level disease in Cftr(-/-) mice.
Proc Natl Acad Sci U S A. 1994 Jan 18;91(2):479-83., [PubMed]
Sentences
No. Mutations Sentence Comment
18 ABCC7 p.Ser489*
X
ABCC7 p.Ser489* 7507247:18:71
status: NEW
view ABCC7 p.Ser489* details
 Early in life, Cftr(-/-) mice [mice homozygous for the Ser-489 to Xaa (S489X) mutation] exhibit severe intestinal disease and little pulmonary disease, which resembles the progression in these organs in CF patients, including those with chain-termination mutations similar to Cftr(-/-) mice (13). Login to comment