PMID: 10325907

Bronsveld I, Bijman J, Mekus F, Ballmann M, Veeze HJ, Tummler B
Clinical presentation of exclusive cystic fibrosis lung disease.
Thorax. 1999 Mar;54(3):278-81., [PubMed]
Sentences
No. Mutations Sentence Comment
68 ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 10325907:68:111
status: NEW
view ABCC7 p.Ala455Glu details
 Other cases of CF with normal sweat test results and pulmonary disease, as described for patients carrying the A455E or 3849+10 kb C->T mutation,7 8 22 23 can clearly be diagnosed by an abnormal ICM even when there are few or no clinical signs of gastrointestinal involvement.10 The CFTR gene was screened for disease causing lesions in all exons and flanking intron sequences and on one chromosome a sequence alteration in a donor splice site was found Figure 2 Nasal potential diVerence (PD) measurements of the patient (x) and mean (SD) PD values of 25 controls (L) and 23 patients with CF ( ) following superfusion with saline solution, amiloride (10-4 M) in saline solution, Cl-free solution with amiloride, isoprenaline (10-4 M) in Cl-free solution with amiloride, and ATP (10-3 M) in Cl-free solution with amiloride and isoprenaline. Login to comment