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

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

<p>Abstract</p> <p>Background</p> <p>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 Inactivatio...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2012-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
X-linked Adrenoleukodystrophy
X Chromosome inactivation
<it>ABCD1</it>
Allele-specific expression.
Online Access:http://www.ojrd.com/content/7/1/10

Internet

http://www.ojrd.com/content/7/1/10

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