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Category: Community
Forum: Teams
Thread: DANIELE TEAM NEED YOUR HELP  |
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Thread Status: Active Total posts in this thread: 518
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Johnny Cool
Ace Cruncher USA Joined: Jul 28, 2005 Post Count: 8621 Status: Offline Project Badges: 
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Crunching in support of Sichuan, but as HCMD phase 2 starts I'll come back home.  byby D.O.T.D.  *dust bunny* |
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Former Member
Cruncher Joined: May 22, 2018 Post Count: 0 Status: Offline |
Hi DANIELE, and Fabama, hope all is well!
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Former Member
Cruncher Joined: May 22, 2018 Post Count: 0 Status: Offline |
**bump**
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Former Member
Cruncher Joined: May 22, 2018 Post Count: 0 Status: Offline |
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Former Member
Cruncher Joined: May 22, 2018 Post Count: 0 Status: Offline |
Hy my friends.
We had a few days of holidays. Now we're back, waiting for the final results of muscular biopsy. Daniele has a point mutation in exon 14 in distrophin gene, but we still don't know if it is a nonsense or a missense mutation. |
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Former Member
Cruncher Joined: May 22, 2018 Post Count: 0 Status: Offline |
Let's all pray and hope for the best possible outcome, hi Daniele!
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Former Member
Cruncher Joined: May 22, 2018 Post Count: 0 Status: Offline |
So, this is the final results.
MISSENSE MUTATION IN EXON 14 OF DYSTROPHIN GENE Does somebody knows about a clinical trial for this kind of mutation? fabama & DANIELE |
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Former Member
Cruncher Joined: May 22, 2018 Post Count: 0 Status: Offline |
So, this is the final results. MISSENSE MUTATION IN EXON 14 OF DYSTROPHIN GENE Does somebody knows about a clinical trial for this kind of mutation? fabama & DANIELE Dear friends, news are that the genetist still doesn't knows if the mutation in exon 14 in dystrophin gene is a MISSENSE or a NONSENSE mutation. They have to anlyze the RNA and it will take a month more or less. The NONSENSE mutation could be treated with a new drug that is now in clinical trial. PTC 124 from PTC Therapeutics (for more information you can visit PTC 124 information page  fabama & DANIELE |
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Johnny Cool
Ace Cruncher USA Joined: Jul 28, 2005 Post Count: 8621 Status: Offline Project Badges:
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So, this is the final results. MISSENSE MUTATION IN EXON 14 OF DYSTROPHIN GENE Does somebody knows about a clinical trial for this kind of mutation? fabama & DANIELE Dear friends, news are that the genetist still doesn't knows if the mutation in exon 14 in dystrophin gene is a MISSENSE or a NONSENSE mutation. They have to anlyze the RNA and it will take a month more or less. The NONSENSE mutation could be treated with a new drug that is now in clinical trial. PTC 124 from PTC Therapeutics (for more information you can visit PTC 124 information page fabama & DANIELE fabama, thanks for the update. I am keeping up with your thread. |
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Former Member
Cruncher Joined: May 22, 2018 Post Count: 0 Status: Offline |
Let's keep our fingers crossed and our hope up that you get the results you want, thanks for the update.
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