PMID: 1382071

Montrose-Rafizadeh C, Blackmon DL, Hamosh A, Oliva MM, Hawkins AL, Curristin SM, Griffin CA, Yang VW, Guggino WB, Cutting GR, et al.
Regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gene transcription and alternative RNA splicing in a model of developing intestinal epithelium.
J Biol Chem. 1992 Sep 25;267(27):19299-305., [PubMed]
Sentences
No. Mutations Sentence Comment
194 ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 1382071:194:83
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Gly458Val
X
ABCC7 p.Gly458Val 1382071:194:93
status: NEW
view ABCC7 p.Gly458Val details
Furthermore, exon9 is the site of twomissense mutations known to causeclinical CF (A455E and G458V), emphasizing the functional importanceof this portionof NBFl (41,42). Login to comment