ABCMdb

PMID: 11773581

Raman V, Clary R, Siegrist KL, Zehnbauer B, Chatila TA
Increased prevalence of mutations in the cystic fibrosis transmembrane conductance regulator in children with chronic rhinosinusitis.
Pediatrics. 2002 Jan;109(1):E13., [PubMed]

Sentences

No. Mutations Sentence Comment

15 ABCC7 p.Arg117His ABCC7 p.Ile148Thr Five patients had the ⌬F508, 1 had the R117H, and 1 had the I148T mutation. Login to comment 68 ABCC7 p.Arg117His ABCC7 p.Ile148Thr None of the patients had a family history of CF. Seven of the 58 patients were found to have CFTR mutations, including 5 with the ⌬F508 mutation, 1 with the R117H mutation, and 1 with the I148T mutation. Login to comment 85 ABCC7 p.Arg117His The patient with the R117H mutation had the 5T polymorphism, which co-segregates as a single allele.17 None of the other patients with mutations was found to be positive for the 5T polymorphism, and none of the patients with the 5T allele had abnormal sweat-test results. Login to comment