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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書誌詳細
出版年:Am J Hum Genet
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2015
主題:
Report
オンライン･アクセス: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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