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PMID: 15996905
Slieker MG, Sanders EA, Rijkers GT, Ruven HJ, van der Ent CK
Disease modifying genes in cystic fibrosis.
J Cyst Fibros. 2005 Aug;4 Suppl 2:7-13.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
102
ABCC7 p.Gly1237Ala
X
ABCC7 p.Gly1237Ala 15996905:102:93
status:
NEW
view ABCC7 p.Gly1237Ala details
Another polymorphism in the 3` non-coding region enhancer-binding element of the a1-AT gene (
G1237A
) may reduce the rise in the level of a1-antitrypsin during the acute phase response, whilst leaving baseline levels unaffected [33].
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105
ABCC7 p.Gly1237Ala
X
ABCC7 p.Gly1237Ala 15996905:105:48
status:
NEW
view ABCC7 p.Gly1237Ala details
In the latter study, no association between the
G1237A
polymorphism and lung function was found.
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107
ABCC7 p.Gly1237Ala
X
ABCC7 p.Gly1237Ala 15996905:107:164
status:
NEW
view ABCC7 p.Gly1237Ala details
Finally, in a large recent Canadian study (n = 716), one of the few that adjusted for confounders, none of the associations between deficiency Z and S genotypes or
G1237A
polymorphisms, and lung function or age of P. aeruginosa colonization could be confirmed [37].
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