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Alexander Disease Research Update - Episode #14: whole exome/genome sequencing; more questions on the brainstem
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Albee Messing and Josh Bonkowsky discuss the following recent publication:
[02:13] Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.European Journal of Medical Research 27, 174 (2022) [full text]
[14:20] Questions from email regarding the brainstem in Alexander disease.
Send your questions and feedback to: axdrupodcast@waisman.wisc.edu
Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:
Chapters
1. Alexander Disease Research Update - Episode #14: whole exome/genome sequencing; more questions on the brainstem (00:00:00)
2. Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing (00:02:13)
3. Questions about brainstem (00:14:20)
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