Single Exon 12 deletion

Trying to see if anyone else in PPMD has mutation type -- exon 12 deletion. Please respond if you do.

Thanks,

-Bain

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Permalink Reply by Angela Bourgeois on March 2, 2013 at 5:55pm
Our son has exon 12 premature stop codone.
Permalink Reply by Vinu Joseph on January 29, 2014 at 9:35am

Dear Bians,

My sons (7y and 3y) have deletion of exon 12 -25, the solution is to skip exon 11 for reducing the severity. I assume this is similar to having exon 12 deletion. Please let me know if ther eis any development happening any where.

Regards Vinu

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