Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.
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 symptoms in...
| Váldodahkkit: | , , , , , |
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| Materiálatiipa: | Artihkal |
| Giella: | English |
| Almmustuhtton: |
Public Library of Science (PLoS)
2013-01-01
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| Ráidu: | PLoS ONE |
| Liŋkkat: | http://europepmc.org/articles/PMC3585930?pdf=render |