ABCMdb

PMID: 17400678

Keen C, Olin AC, Edentoft A, Gronowitz E, Strandvik B
Airway nitric oxide in patients with cystic fibrosis is associated with pancreatic function, Pseudomonas infection, and polyunsaturated fatty acids.
Chest. 2007 Jun;131(6):1857-64. Epub 2007 Mar 30., [PubMed]

Sentences

No. Mutations Sentence Comment

29 ABCC7 p.Glu60* Group 1 included patients with homozygotes for dF508, while group 2 included patients with heterozygotes for dF508 with one other "severe" mutation (eg, 394delTT, 3659delC, E60X, or 1112 delT) or homozygotes for that other mutation. Login to comment 30 ABCC7 p.Arg117His ABCC7 p.Arg560Thr ABCC7 p.Arg75Gln ABCC7 p.Thr338Ile ABCC7 p.Ser945Leu ABCC7 p.Arg117Cys ABCC7 p.Val603Phe ABCC7 p.Asn1088Asp ABCC7 p.Arg658* Patients in group 3 were heterozygous for mutations dF508 and V603F, R560T, or 621 ϩ 1G-T; group 4 patients were heterozygous for mutations dF508, 3659del C, or 394delTT and a mutation linked to a "mild" phenotype (eg, N1088D, R117C, R117H, R75Q, R658X, S945L, 1154insTC, or T338I). Login to comment