Familial Skewed X Chromosome Inactivation in Adrenoleukodystrophy Manifesting Heterozygotes from a Chinese Pedigree

BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder caused by mutations in the ABCD1 gene. Approximately 20% of X-ALD female carriers may develop neurological symptoms. Skewed X chromosome inactivation (XCI) has been proposed to influence the manifestation of...

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Detalles Bibliográficos
Autores principales: Wang, Zhihong, Yan, Aizhen, Lin, Yuxiang, Xie, Haihua, Zhou, Chunyan, Lan, Fenghua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3585930/
https://www.ncbi.nlm.nih.gov/pubmed/23469258
http://dx.doi.org/10.1371/journal.pone.0057977

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3585930/
https://www.ncbi.nlm.nih.gov/pubmed/23469258
http://dx.doi.org/10.1371/journal.pone.0057977

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