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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.
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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).
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