PMID: 11601754

Davies JC, Geddes DM, Alton EW
Gene therapy for cystic fibrosis.
J Gene Med. 2001 Sep-Oct;3(5):409-17., [PubMed]
Sentences
No. Mutations Sentence Comment
92 ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 11601754:92:41
status: NEW
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 Encouragingly, certain mutations such as A455E, associated with approximately 5% CFTR function, appear to confer a mild pulmonary phenotype [53]. Login to comment 94 ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 11601754:94:126
status: NEW
view ABCC7 p.Ala455Glu details
 However, when considering this issue, it is important to bear in mind that in both the interbred mice and the humans with the A455E genotype, each cell would express low levels of CFTR (5-10%). Login to comment