Design and Validation of a Conformation Sensitive Capillary Electrophoresis-Based Mutation Scanning System and Automated Data Analysis of the More than 15 kbp-Spanning Coding Sequence of the SACS Gene

In this study, we developed and analytically validated a fully automated, robust confirmation sensitive capillary electrophoresis (CSCE) method to perform mutation scanning of the large SACS gene. This method facilitates a rapid and cost-effective molecular diagnosis of autosomal recessive spastic a...

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Détails bibliographiques
Auteurs principaux: Vermeer, Sascha, Meijer, Rowdy P.P., Hofste, Tom G.J., Bodmer, Daniëlle, Bosgoed, Ermanno A.J., Cremers, Frans P.M., Kremer, Berry H.P., Knoers, Nine V.A.M., Scheffer, Hans
Format: Artigo
Langue:Inglês
Publié: American Society for Investigative Pathology 2009
Sujets:
Technical Advances
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2765749/
https://ncbi.nlm.nih.gov/pubmed/19779133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2009.090059
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