A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3 Locus

At least 40 human diseases are associated with repeat expansions; yet, the mutational origin and instability mechanisms remain unknown for most of them. Previously, genetic epidemiology and predisposing backgrounds for the instability of some expanding loci have been studied in different populations...

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Detalles Bibliográficos
Autores principales: Costa, Inês P. D., Almeida, Beatriz C., Sequeiros, Jorge, Amorim, António, Martins, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370646/
https://www.ncbi.nlm.nih.gov/pubmed/30804982
http://dx.doi.org/10.3389/fgene.2019.00038

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370646/
https://www.ncbi.nlm.nih.gov/pubmed/30804982
http://dx.doi.org/10.3389/fgene.2019.00038

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