PMID: 16798543

Davies JC
New tests for cystic fibrosis.
Paediatr Respir Rev. 2006;7 Suppl 1:S141-3. Epub 2006 Jun 5., [PubMed]
Sentences
No. Mutations Sentence Comment
46 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 16798543:46:122
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 16798543:46:112
status: NEW
view ABCC7 p.Ala455Glu details
 A very small number of mutations which appear to confer a mild pulmonary phenotype have been described, such as A455E and R117H. Login to comment