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Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

BACKGROUND: Approximately 20% of adrenoleukodystrophy (X-ALD) female carriers may develop clinical manifestations, typically consisting of progressive spastic gait, sensory deficits and bladder dysfunctions. A skewing in X Chromosome Inactivation (XCI), leading to the preferential expression of the...

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Detalles Bibliográficos
Autores principales:	Salsano, Ettore, Tabano, Silvia, Sirchia, Silvia M, Colapietro, Patrizia, Castellotti, Barbara, Gellera, Cinzia, Rimoldi, Marco, Pensato, Viviana, Mariotti, Caterina, Pareyson, Davide, Miozzo, Monica, Uziel, Graziella
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298485/ https://www.ncbi.nlm.nih.gov/pubmed/22280810 http://dx.doi.org/10.1186/1750-1172-7-10

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