PMID: 12840066

Russo MA, Hogenauer C, Coates SW Jr, Santa Ana CA, Porter JL, Rosenblatt RL, Emmett M, Fordtran JS
Abnormal passive chloride absorption in cystic fibrosis jejunum functionally opposes the classic chloride secretory defect.
J Clin Invest. 2003 Jul;112(1):118-25., [PubMed]
Sentences
No. Mutations Sentence Comment
58 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12840066:58:466
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12840066:58:419
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12840066:58:426
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12840066:58:472
status: NEW
view ABCC7 p.Gly542* details
The Journal of Clinical Investigation | July 2003 | Volume 112 | Number 1 119 Table 1 Demographics and CFTR mutation analysis Patient Sex, age CFTR mutation analysis Meconium BMIA FVC FEV1 Work/school Number of Experiments ileus (% pred) (% pred) statusB hospital admissionsC conductedD 1 F, 33 ∆F508/1898 + 1G-A No 23 112 106 1 1 b, c, d, e 2 M, 28 ∆F508/∆F508 Yes 18 35 23 2 2 b, c, d, e 3 F, 21 W1282X/W1282X Yes 22 77 76 1 1 a, b, d 4 M, 26 G551D/G542X No 23 68 65 1 1 b 5 M, 20 ∆F508/∆F508 Yes 19 106 99 1 1 b 6 M, 24 ∆F508/∆F508 Yes 18 69 58 1 1 b 7 M, 34 ∆F508/∆F508 No 22 64 45 1 0 a, b, d 8 F, 20 ∆F508/∆F508 No 21 81 91 1 2 a, c, d, e 9 M, 28 ∆F508/∆F508 No 18 83 67 1 1 a, d 10 F, 38 ∆F508/∆F508 No 22 58 39 3 4E a 11 M, 28 ∆F508/∆F508 Yes 18 55 44 1 1 c, e 12 M, 27 NegativeF/∆F508 No 22 48 44 2 2 c, e AHealthy adult body mass index: 18.5-24.9 kg/m2. Login to comment