C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients

A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum repeat number necessary for disease pathogenesis is not known. The aims of our study were to determine the frequency of the C9ORF72 repeat expansion in two FTD p...

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Hlavní autoři: Dobson-Stone, Carol, Hallupp, Marianne, Loy, Clement T., Thompson, Elizabeth M., Haan, Eric, Sue, Carolyn M., Panegyres, Peter K., Razquin, Cristina, Seijo-Martínez, Manuel, Rene, Ramon, Gascon, Jordi, Campdelacreu, Jaume, Schmoll, Birgit, Volk, Alexander E., Brooks, William S., Schofield, Peter R., Pastor, Pau, Kwok, John B. J.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2013
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3577667/
https://ncbi.nlm.nih.gov/pubmed/23437264
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0056899
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