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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Xehetasun bibliografikoak
Argitaratua izan da:Am J Hum Genet
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2015
Gaiak:
Report
Sarrera elektronikoa: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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