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A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death

A growing number of human disorders have been associated with expansions of a tract of a single amino acid. Recently, polyalanine (polyA) tract expansions in the Aristaless-related homeobox (ARX) protein have been identified in a subset of patients with infantile spasms and mental retardation. How a...

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Detalles Bibliográficos
Autores principales: Nasrallah, Ilya M., Minarcik, Jeremy C., Golden, Jeffrey A.
Formato: Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2004
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2172475/
https://www.ncbi.nlm.nih.gov/pubmed/15533998
http://dx.doi.org/10.1083/jcb.200408091