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High Throughput Genetic Analysis of Congenital Myasthenic Syndromes Using Resequencing Microarrays

BACKGROUND: The use of resequencing microarrays for screening multiple, candidate disease loci is a promising alternative to conventional capillary sequencing. We describe the performance of a custom resequencing microarray for mutational analysis of Congenital Myasthenic Syndromes (CMSs), a group o...

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Autores principales: Denning, Lisa, Anderson, Jennifer A., Davis, Ryan, Gregg, Jeffrey P., Kuzdenyi, Jennifer, Maselli, Ricardo A.
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2007
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1975473/
https://ncbi.nlm.nih.gov/pubmed/17878953
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0000918
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