PMID: 14605249

Derichs N, Mekus F, Bronsveld I, Bijman J, Veeze HJ, von der Hardt H, Tummler B, Ballmann M
Cystic fibrosis transmembrane conductance regulator (CFTR)-mediated residual chloride secretion does not protect against early chronic Pseudomonas aeruginosa infection in F508del homozygous cystic fibrosis patients.
Pediatr Res. 2004 Jan;55(1):69-75. Epub 2003 Nov 6., [PubMed]
Sentences
No. Mutations Sentence Comment
9 ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 14605249:9:23
status: NEW
view ABCC7 p.Ala455Glu details
 CFTR mutations such as A455E have been reported to give rise to residual Cl-secretion and a milder disease phenotype, i.e. pancreatic sufficiency and less frequent PA colonization (2, 3). Login to comment 10 ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 14605249:10:25
status: NEW
view ABCC7 p.Ala455Glu details
 However, mildly diseased A455E heterozygous patients have been described who do not exhibit residual Cl-secretion (4). Login to comment