PMID: 9580755

Wilson DC, Ellis L, Zielenski J, Corey M, Ip WF, Tsui LC, Tullis E, Knowles MR, Durie PR
Uncertainty in the diagnosis of cystic fibrosis: possible role of in vivo nasal potential difference measurements.
J Pediatr. 1998 Apr;132(4):596-9., [PubMed]
Sentences
No. Mutations Sentence Comment
41 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 9580755:41:84
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 9580755:41:450
status: NEW
view ABCC7 p.Arg75Gln details
Sex (yr) history culture* Mean (n) Range analysis 1 F 16 No PA, PA, SA 52 (5) 35-73 G551D/- 2 M 7 No - 54 (5) 43-59 ࢞F508/- 3 F 25 No SA 44 (5) 38-57 -/- 4 F 32 No - 59 (6) 10-105 -/- 5 M 35 No SA 87 (5) 59-116 ࢞F508/- 6 M 20 No SA 73 (4) 57-88 -/- 7 F 16 No PA, PA, SA 50 (8) 28-84 -/- 8 M 34 No PA 68 (4) 47-81 -/- 9 F 33 Yesߤ - 58 (4) 17-74 ࢞F508/- 10 M 36 No - 51 (2) 33-69 ࢞F508/- 11 M 31 Yesߤ - 58 (2) 47-69 R75Q/- PA, Pseudomonas aeruginosa; SA, Staphylococcus aureus. Login to comment
42 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 9580755:42:84
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 9580755:42:456
status: NEW
view ABCC7 p.Arg75Gln details
Sex (yr) history culture* Mean (n) Range analysis 1 F 16 No PA, PA, SA 52 (5) 35-73 G551D/- 2 M 7 No - 54 (5) 43-59 ∆F508/- 3 F 25 No SA 44 (5) 38-57 -/- 4 F 32 No - 59 (6) 10-105 -/- 5 M 35 No SA 87 (5) 59-116 ∆F508/- 6 M 20 No SA 73 (4) 57-88 -/- 7 F 16 No PA, PA, SA 50 (8) 28-84 -/- 8 M 34 No PA 68 (4) 47-81 -/- 9 F 33 Yes† - 58 (4) 17-74 ∆F508/- 10 M 36 No - 51 (2) 33-69 ∆F508/- 11 M 31 Yes† - 58 (2) 47-69 R75Q/- PA, Pseudomonas aeruginosa; SA, Staphylococcus aureus. Login to comment