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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 Angie Doub on March 18, 2011 at 9:05pm
My son Austin is 15.  He has a deletion in exon 53 only.  Does anyone else have this one?
Comment by Ruth Griffith on November 17, 2010 at 9:18pm
This image helps me understand the "jigsaw puzzle" analogy better: click on http://www.actionduchenne.org/articleimages/15/aimg76.jpg.
Comment by David on September 1, 2010 at 10:01am
Correction: Prof. Wilton works for The University of Western Australia, which is in Nedlands, Western Australia.

https://www.socrates.uwa.edu.au/Staff/StaffProfile.aspx?Person=Step...
Comment by David on September 1, 2010 at 9:13am
Katerina - regarding Prof Wilton's most recent research, you won't find much published. The paper he gave at PPMD conference in Denver in June was the latest and was not yet published. He told me to expect more information would be released from Univ. of Perth (where he works) at World Muscle Society conference in September.
Comment by dea sang moon on August 24, 2010 at 4:28am
My son Jun won has an in-frame deletion 45-55.
Comment by thomas m golf on August 14, 2010 at 10:40am
i want to know about deletion 47 48
Comment by thomas m golf on August 14, 2010 at 10:39am
i think my son has deletion 47 48 could anyone help with it what will happen
Comment by Alejandra Lagffer on July 29, 2010 at 12:13am
in the web page treat nmd It says that the exon skiping treatment cannot be done if the first exon are deleted and the last are also missing
Comment by Alejandra Lagffer on July 28, 2010 at 10:50pm
Brad your son will not be ellegible for the exon skiping because has deleted the exon 2 and the exon skiping cannot be done if the first and the last exons are deleted i will send you the link in which this is written
Comment by Katerina on June 30, 2010 at 4:59am
There is a table where you can find what skip do you need.
http://www.humgen.nl/lab-aartsma-rus/Table%20deletions.pdf

We need 20 or 22 exon skipping. So David I 'm interested what does 22/23 skip means. Where can i find the information about Prof Wilton's research?
 

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