PMID: 1284470

Tucker SJ, Tannahill D, Higgins CF
Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene.
Hum Mol Genet. 1992 May;1(2):77-82., [PubMed]
Sentences
No. Mutations Sentence Comment
115 ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 1284470:115:52
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Gly458Val
X
ABCC7 p.Gly458Val 1284470:115:62
status: NEW
view ABCC7 p.Gly458Val details
 Other missense mutations implicated in the disease, A455E and G458V (25)(26), also show conservation at these positions, supporting the view that they are functionally important. Login to comment