ABCC7 p.Arg1422Trp
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 11504857
[PubMed]
Chen JM et al: "A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models."
No.
Sentence
Comment
544
Consistent with this hypothesis, none of the three missense mutations identified in this region (fig. 2) can be confidently assigned as causal for CF disease; for example, R1422W was identified in a CF patient who also carried the mutations F508del and D993Y, and R1453W was identified in a patient with diffuse panbronchiolitis (http://www.genet.sickkids.on. ca/cftr).
X
ABCC7 p.Arg1422Trp 11504857:544:172
status: NEW