Jump from Pre-mutation to Pathologic Expansion in C9orf72

An expanded G(4)C(2) repeat in C9orf72 represents the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). However, the lower limit for pathological expansions is unknown (the suggested cutoff is 30 repeats). It has been proposed that t...

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Publié dans:Am J Hum Genet
Auteurs principaux: Xi, Zhengrui, van Blitterswijk, Marka, Zhang, Ming, McGoldrick, Philip, McLean, Jesse R., Yunusova, Yana, Knock, Erin, Moreno, Danielle, Sato, Christine, McKeever, Paul M., Schneider, Raphael, Keith, Julia, Petrescu, Nicolae, Fraser, Paul, Tartaglia, Maria Carmela, Baker, Matthew C., Graff-Radford, Neill R., Boylan, Kevin B., Dickson, Dennis W., Mackenzie, Ian R., Rademakers, Rosa, Robertson, Janice, Zinman, Lorne, Rogaeva, Ekaterina
Format: Artigo
Langue:Inglês
Publié: Elsevier 2015
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4457950/
https://ncbi.nlm.nih.gov/pubmed/26004200
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.04.016
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