ABCMdb

PMID: 9877480

Fajac I, Hubert D, Bienvenu T, Richaud-Thiriez B, Matran R, Kaplan JC, Dall'Ava-Santucci J, Dusser DJ
Relationships between nasal potential difference and respiratory function in adults with cystic fibrosis.
Eur Respir J. 1998 Dec;12(6):1295-300., [PubMed]

Sentences

No. Mutations Sentence Comment

34 ABCC7 p.Gly542* ABCC7 p.Arg1070Gln ABCC7 p.Asp1152His Only three patients had a normal sweat test: one was homozygotic for the ∆F508 mutation and two patients were compound heterozygotic for the G542X and 3849+10 kb cytosine (C) → thymine (T) mutations and for the R1070Q and D1152H mutations, respectively. Login to comment 131 ABCC7 p.Arg1070Gln ABCC7 p.Trp846* ∆F508/W846X ∆F508/∆F508 ∆F508/∆F508 ∆I507/Q980X ∆F508/∆F508 ∆F508/∆F508 ∆F508/∆F508 R1070Q/? Login to comment 148 ABCC7 p.Ala455Glu In five CF patients carrying the A455E mutation associated with mild pulmonary disease, severe defects in airway bioelectrical properties were found [10]. Login to comment