Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture

Traditional methods for the analysis of repeat expansions, which underlie genetic disorders, such as fragile X syndrome (FXS), lack single-nucleotide resolution in repeat analysis and the ability to characterize causative variants outside the repeat array. These drawbacks can be overcome by long-rea...

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Detalles Bibliográficos
Autores principales: Grosso, Valentina, Marcolungo, Luca, Maestri, Simone, Alfano, Massimiliano, Lavezzari, Denise, Iadarola, Barbara, Salviati, Alessandro, Mariotti, Barbara, Botta, Annalisa, D’Apice, Maria Rosaria, Novelli, Giuseppe, Delledonne, Massimo, Rossato, Marzia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504923/
https://www.ncbi.nlm.nih.gov/pubmed/34646309
http://dx.doi.org/10.3389/fgene.2021.743230

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504923/
https://www.ncbi.nlm.nih.gov/pubmed/34646309
http://dx.doi.org/10.3389/fgene.2021.743230

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