ABCMdb

PMID: 25060775

Com G, Uc A
Exercise intolerance, malnutrition, abnormal sweat chloride levels, and two CFTR mutations: is it cystic fibrosis?
J Pediatr Health Care. 2015 Mar-Apr;29(2):201-4. doi: 10.1016/j.pedhc.2014.05.010. Epub 2014 Jul 22., [PubMed]

Sentences

No. Mutations Sentence Comment

31 ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala A full CFTR mutation panel revealed heterozygous mutations of p.G576A and p.R668C. Login to comment 45 ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala Meanwhile, his CFTR gene mutation information was researched on two CF mutation databases (www.genet.sickkids.on.ca and www.cftr2.org), and it was found that neither p.G576A nor p.R668C mutations were associated with clinically significant disease. Login to comment