PMID: 10459902

Alton EW, Stern M, Farley R, Jaffe A, Chadwick SL, Phillips J, Davies J, Smith SN, Browning J, Davies MG, Hodson ME, Durham SR, Li D, Jeffery PK, Scallan M, Balfour R, Eastman SJ, Cheng SH, Smith AE, Meeker D, Geddes DM
Cationic lipid-mediated CFTR gene transfer to the lungs and nose of patients with cystic fibrosis: a double-blind placebo-controlled trial.
Lancet. 1999 Mar 20;353(9157):947-54., [PubMed]
Sentences
No. Mutations Sentence Comment
28 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10459902:28:82
status: NEW
view ABCC7 p.Trp1282* details
 The genotypes of these patients were: 12 ࢞F508/࢞F508, one ࢞F508/W1282X, and three ࢞F508/other (ie, no mutation detected after screening for mutations present in 92-94% of UK patients with cystic fibrosis).21 All patients met accepted diagnostic criteria for cystic fibrosis, including an abnormal sweat test, and all patients had a forced expiratory volume in 1 s of at least 70% predicted. Login to comment