PMID: 11472971

Bals R, Weiner DJ, Meegalla RL, Accurso F, Wilson JM
Salt-independent abnormality of antimicrobial activity in cystic fibrosis airway surface fluid.
Am J Respir Cell Mol Biol. 2001 Jul;25(1):21-5., [PubMed]
Sentences
No. Mutations Sentence Comment
33 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 11472971:33:211
status: NEW
view ABCC7 p.Trp1282* details
The CF patients (average age 8.8 yr, range 1 to 24 yr) were characterized regarding their genotype (eight ⌬F508 homozygous, one ⌬F508/2789 ϩ 5G-A, one ⌬F508/2184delA, one ⌬F508/W1282X, one ⌬F508/ (Received in original form November 13, 2000 and in revised form February 7, 2001) Address correspondence to: James M. Wilson, M.D., Ph.D., 3601 Spruce St., 204 Wistar Institute, Philadelphia, PA 19104-4268. Login to comment
35 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 11472971:35:90
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 11472971:35:0
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 11472971:35:46
status: NEW
view ABCC7 p.Gly542* details
R347P, and one ⌬F508/unknown; plus one G542X/unknown, one 621 ϩ 1G Ͼ T/W1282X, and four unknown) and their bacteriology (three Staphylococcus aureus positive, three Pseudomonas aeruginosa positive, and four other positive results). Login to comment