CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy
CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy
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United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
X-linked adrenoleukodystrophy (X-ALD) is characterized by marked phenotypic variation ranging from adrenomyeloneuropathy (AMN) to childhood cerebral ALD (CCALD). X-ALD is caused by mutations in the ABCD1 gene, but no genotype-phenotype correlation has been established so far and modifier gene variants are suspected to modulate phenotypes. Specific...
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Full title
CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy
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TN_cdi_plos_journals_1323071087
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1323071087
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0029872
