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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...
Autores principales: | , , |
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Formato: | Texto |
Lenguaje: | English |
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The Rockefeller University Press
2004
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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 |