PMID: 23089694

Chen CH, Chang CC, Yang BY, Lin PY, Wang CS
Acute appendicitis mimicking intestinal obstruction in a patient with cystic fibrosis.
J Formos Med Assoc. 2012 Oct;111(10):580-3. doi: 10.1016/j.jfma.2012.07.011. Epub 2012 Sep 10., [PubMed]
Sentences
No. Mutations Sentence Comment
28 ABCC7 p.Ile1023Arg
X
ABCC7 p.Ile1023Arg 23089694:28:229
status: NEW
view ABCC7 p.Ile1023Arg details
 Sweat chloride tests were remarkably high (>100 meq/l), but it was not until 5 years previously that a diagnosis of CF was confirmed by peripheral blood analysis of CFTR gene (heterozygous c.1898 &#fe; 5G > T and heterozygous p. I1023R). Login to comment