ABCMdb

PMID: 10230924

Beck S, Kuhr J, Schutz VV, Seydewitz HH, Brandis M, Greger R, Kunzelmann K
Lack of correlation between CFTR expression, CFTR Cl- currents, amiloride-sensitive Na+ conductance, and cystic fibrosis phenotype.
Pediatr Pulmonol. 1999 Apr;27(4):251-9., [PubMed]

Sentences

No. Mutations Sentence Comment

116 ABCC7 p.Asn1303Lys 80 0.8 ± 0.1 (n ‫ס‬ 5) 0.3 ± 0.8 (n ‫ס‬ 3) -6.3 ± 0.6* (n ‫ס‬ 3) CF-8 N ⌬1507/N1303K 90 0.7 (n ‫ס‬ 2) n.d. n.d. CF-9 N ⌬F508/G553X 70 0.6 (n ‫ס‬ 2) n.d. n.d. CF-10 P ⌬F508/⌬F508 70 1.0 ± 0.2 (n ‫ס‬ 5) n.d. n.d. CF-11 P ⌬F508/? Login to comment 117 ABCC7 p.Gly551Asp 80 2.1 (n ‫ס‬ 2) 1.1 ± 0.6 (n ‫ס‬ 3) -5.8 ± 2.6* (n ‫ס‬ 9) CF-12 P ⌬F508/G551D 90 1.8 ± 0.1 (n ‫ס‬ 3) 0.1 ± 0.08 (n ‫ס‬ 3) -13.8 ± 3.2* (n ‫ס‬ 8) CF-13 P ⌬F508/⌬F508 60 1.3 ± 0.1 (n ‫ס‬ 3) 1.3 ± 0.3 (n ‫ס‬ 5) -5.4 ± 1.5* (n ‫ס‬ 4) CF-14 P ⌬F508/? Login to comment