Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease

We aimed to determine the genetic diversity and molecular characteristics of the Huntington disease (HD) gene (HTT) in Spain. We performed an extended haplotype and exon one deep sequencing analysis of the HTT gene in a nationwide cohort of population-based controls (n = 520) and families with sympt...

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Detalles Bibliográficos
Autores principales: Ruiz de Sabando, Ainara, Urrutia Lafuente, Edurne, Galbete, Arkaitz, Ciosi, Marc, García Amigot, Fermín, García Solaesa, Virginia, Monckton, Darren G, Ramos-Arroyo, Maria A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990985/
https://www.ncbi.nlm.nih.gov/pubmed/36130218
http://dx.doi.org/10.1093/hmg/ddac224

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990985/
https://www.ncbi.nlm.nih.gov/pubmed/36130218
http://dx.doi.org/10.1093/hmg/ddac224

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