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2789+5g->a
Hallo, I know there are several of us with this kind of mutation. My genotype is very rare. 2789+5G->A + E585X. I tried to enroll in the Denver study with Kalydeco (Ivacaftor) but I'm form europe, then it's too far from here. And no one would pay for the trips. I'm 31, Pancreas Suff. MSSA and...- cftrsplicing
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- Replies: 14
- Forum: 2789+5G->A
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2789+5G->A mutation
Just wodering who has this allele. I have it aswell as a Stop class I mutation.- cftrsplicing
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- Replies: 13
- Forum: Adults
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Ivacaftor and splicing mutations..
What do you think about this? Here are my thoughts. http://www.cftrsplicing.com/page.php?7 Any hints will be usefull.- cftrsplicing
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- Replies: 6
- Forum: CFTR Modulation and Gene Therapy Talk