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Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26

BACKGROUND: Mutations in genes whose products modify chromatin structure have been recognized as a cause of X-linked mental retardation (XLMR). These genes encode proteins that regulate DNA methylation (MeCP2), modify histones (RSK2 and JARID1C), and remodel nucleosomes through ATP hydrolysis (ATRX)...

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Detalles Bibliográficos
Autores principales:	Lazzaro, Maribeth A, Todd, Matthew AM, Lavigne, Paul, Vallee, Dominic, De Maria, Adriana, Picketts, David J
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2008
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2266716/ https://www.ncbi.nlm.nih.gov/pubmed/18302774 http://dx.doi.org/10.1186/1471-2350-9-11

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