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*
X
ABCC7 p.Glu60* 17400678:29:173
status: NEW
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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
X
ABCC7 p.Arg117His 17400678:30:240
status: NEW
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ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 17400678:30:69
status: NEW
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ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 17400678:30:247
status: NEW
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ABCC7 p.Thr338Ile
X
ABCC7 p.Thr338Ile 17400678:30:281
status: NEW
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ABCC7 p.Ser945Leu
X
ABCC7 p.Ser945Leu 17400678:30:260
status: NEW
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ABCC7 p.Arg117Cys
X
ABCC7 p.Arg117Cys 17400678:30:233
status: NEW
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ABCC7 p.Val603Phe
X
ABCC7 p.Val603Phe 17400678:30:62
status: NEW
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ABCC7 p.Asn1088Asp
X
ABCC7 p.Asn1088Asp 17400678:30:225
status: NEW
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ABCC7 p.Arg658*
X
ABCC7 p.Arg658* 17400678:30:253
status: NEW
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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