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A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X–Related Disorders

The diagnosis and study of the fragile X–related disorders is complicated by the difficulty of amplifying the long CGG/CCG-repeat tracts that are responsible for disease pathology, the potential presence of AGG interruptions within the repeat tract that can ameliorate expansion risk, the occurrence...

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Detalles Bibliográficos
Publicado en:J Mol Diagn
Main Authors: Hayward, Bruce E., Zhou, Yifan, Kumari, Daman, Usdin, Karen
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Investigative Pathology 2016
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5807930/
https://ncbi.nlm.nih.gov/pubmed/27528259
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2016.06.001
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