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PMID: 17204267
Conner GE, Wijkstrom-Frei C, Randell SH, Fernandez VE, Salathe M
The lactoperoxidase system links anion transport to host defense in cystic fibrosis.
FEBS Lett. 2007 Jan 23;581(2):271-8. Epub 2006 Dec 19.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
80
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 17204267:80:61
status:
NEW
view ABCC7 p.Trp1282* details
All three individuals had one DF508 allele, one had a second
W1282X
allele (nonsense mutation), while the second alleles in the other two patients were unidentified.
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82
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 17204267:82:61
status:
NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 17204267:82:66
status:
NEW
view ABCC7 p.Trp1282* details
Transport rates for cultures from each CF individual were: D
F508/W1282X
, 1.69 ± 0.32 (n = 8) and 2.41 ± 0.72 (n = 5) as well as 3.65 ± 2.34 (n = 3) for the other two.
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84
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 17204267:84:66
status:
NEW
view ABCC7 p.Trp1282* details
Transport rates for cultures from each CF individual were: D F508/
W1282X
, 1.69 &#b1; 0.32 (n = 8) and 2.41 &#b1; 0.72 (n = 5) as well as 3.65 &#b1; 2.34 (n = 3) for the other two.
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