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Deletions

Members: 237
Latest Activity: Feb 3, 2017

Discussions

Deletion of exon 44

Started by Rahul Deshpande. Last reply by Tuyet Lan Thi Tran Jul 26, 2014. 2 Replies

Exons 51-53?

Started by Kira Mullaly. Last reply by vishal wadhwani Jul 25, 2014. 9 Replies

Deletion of Exon 45 (Out of Frame)

Started by Tammy. Last reply by Ramya Srinivassan May 2, 2014. 15 Replies

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Comment by Rosanna Ouellette on June 14, 2008 at 11:53am
My son Jake has a deletion of exon 45. I had spoke to Steve Wilton who is doing the skipping research and he said with a 45 deletion the skipping works. (In the lab of course)
Comment by Ofelia Marin on June 13, 2008 at 8:13pm
My son Robert is 8 months old. He has a deletion of exon 50 diagnosed through newborn screening; skipping 51 will make it in-frame.
Comment by cheryl cliff on June 13, 2008 at 9:44am
I have heard of some exon skipping program where they plan to group several exon numbers together, meaning when the cocktail is made it will serve to skip say...numbers 1 thru 50 in big chunks. Anyone else know of this or could it be rumor?

cheryl
Comment by Nicole Norris on June 7, 2008 at 11:12pm
My son has a deletion of exons 5-7. Any one else have this ?
Comment by MicahsDaddy on June 6, 2008 at 9:54am
With a del of 45, Kim's son would need to skip 44 or 46. He has the same del as Micah's.
Comment by Bains on June 6, 2008 at 8:45am
My son has exon 12 deletion and 7.3 yrs now. Hoping and praying for cure soon.
Comment by cheryl cliff on June 5, 2008 at 7:09pm
Kim,
I think our sons are in the same "exon skipping boat", meaning they both need to skip exon 45. Or do I have that wrong?
Comment by Jessica Rownd on June 5, 2008 at 2:30pm
Our son is 22 months old. He has a deletion of exons 18-41. He was diagnosed at 14 months old.
Comment by cheryl cliff on June 5, 2008 at 11:19am
Our son is missing 2 neucleotides on Exon 44. I think this means he needs skipping for 45? My understanding is Prosensa announced they have the "cocktail recipe" for skipping 44 and others. I could have that data mixed tho, anyone know?

cheryl
Comment by Deb Robins on June 5, 2008 at 6:46am
My son Doug is 20. His deletion is at least 48-52.

If you have any questions about exon skipping you're welcome to join our PP Australia chat this Sunday 4pm AEST with guest Dr Sue Fletcher. Just email for a tutorial on downloading our conference room if you can't figure it out from the web info.
 

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