Alexander Disease Research Update - Episode #14: whole exome/genome sequencing; more questions on the brainstem
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About this episode
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.
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Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:
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