ABCMdb

PMID: 11420207

Doull IJ
Recent advances in cystic fibrosis.
Arch Dis Child. 2001 Jul;85(1):62-6., [PubMed]

Sentences

No. Mutations Sentence Comment

27 ABCC7 p.Arg117His The class IV mutation R117H occurs with either five or seven thymidine residues (5T or 7T), and disease severity is increased with the 5T variant. Login to comment 32 ABCC7 p.Arg117His Azoospermia has long been recognised as a feature of cystic fibrosis, but mutational analysis of otherwise healthy infertile males with congenital bilateral absence of the vas deferens has demonstrated two CFTR mutations in up to 50% of subjects.8 Most subjects have either 5T splicing mutations or R117H, and although they are usually completely asymptomatic there is increasing evidence that they may still get respiratory complications. Login to comment