ABCMdb

PMID: 16281647

Southern KW, Peckham D
Establishing a diagnosis of cystic fibrosis.
Chron Respir Dis. 2004;1(4):205-10., [PubMed]

Sentences

No. Mutations Sentence Comment

47 ABCC7 p.Arg117His Given that R117H is one of the more common CFTR mutations and is often associated with a severe phenotype, it will continue to be included in most newborn screening programmes that employ DNA analysis. Login to comment 51 ABCC7 p.Arg334Trp ABCC7 p.Pro67Leu For example, another splice site mutation (3849 + 10 kb C > T) and other class IV mutations (e.g., I1 19V, R334W and P67L) have been associated with borderline sweat tests. Login to comment 54 ABCC7 p.Ser1455* One mutation of the CFTR gene (S1455X) results in an abnormal sweat test but no other phenotypic evidence of CF.10 This is a nonsense mutation that results in a truncated CFTR protein with the final 26 amino acids missing. Login to comment