Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population

Meiotic nondisjunction and resulting aneuploidy can lead to severe health consequences in humans. Aneuploidy rescue can restore euploidy but may result in uniparental disomy (UPD), the inheritance of both homologs of a chromosome from one parent with no representative copy from the other. Current un...

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Detalles Bibliográficos
Autores principales: Nakka, Priyanka, Pattillo Smith, Samuel, O’Donnell-Luria, Anne H., McManus, Kimberly F., Mountain, Joanna L., Ramachandran, Sohini, Sathirapongsasuti, J. Fah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848996/
https://www.ncbi.nlm.nih.gov/pubmed/31607426
http://dx.doi.org/10.1016/j.ajhg.2019.09.016

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