PMID: 11984593

Egan ME, Glockner-Pagel J, Ambrose C, Cahill PA, Pappoe L, Balamuth N, Cho E, Canny S, Wagner CA, Geibel J, Caplan MJ
Calcium-pump inhibitors induce functional surface expression of Delta F508-CFTR protein in cystic fibrosis epithelial cells.
Nat Med. 2002 May;8(5):485-92., [PubMed]
Sentences
No. Mutations Sentence Comment
192 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 11984593:192:89
status: NEW
view ABCC7 p.Trp1282* details
 Genotypically, IB3-1 is a compound heterozygote containing the ∆F508 mutation and W1282X. Login to comment