Structural Variants May Be a Source of Missing Heritability in sALS

The underlying genetic and molecular mechanisms that drive amyotrophic lateral sclerosis (ALS) remain poorly understood. Structural variants within the genome can play a significant role in neurodegenerative disease risk, such as the repeat expansion in C9orf72 and the tri-nucleotide repeat in ATXN2...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Front Neurosci
Prif Awduron: Theunissen, Frances, Flynn, Loren L., Anderton, Ryan S., Mastaglia, Frank, Pytte, Julia, Jiang, Leanne, Hodgetts, Stuart, Burns, Daniel K., Saunders, Ann, Fletcher, Sue, Wilton, Steve D., Akkari, Patrick Anthony
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Frontiers Media S.A. 2020
Pynciau:
Neuroscience
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7005198/
https://ncbi.nlm.nih.gov/pubmed/32082115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnins.2020.00047
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