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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2012
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3298485/
https://ncbi.nlm.nih.gov/pubmed/22280810
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-10
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