In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy
In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy
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Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
Adrenoleukodystrophy (ALD), an X-linked leukodystrophy caused by pathogenic variants in
ABCD1
, exhibits a broad range of phenotypes from childhood-onset cerebral forms to adult-onset adrenomyeloneuropathy (AMN). We report a rare in-frame
ABCD1
deletion c.1469_71delTGG (p.Val490del) in a man with AMN. Although this variant has been inte...
Alternative Titles
Full title
In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_815f4edcccd2475f8c6705ebc683f653
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_815f4edcccd2475f8c6705ebc683f653
Other Identifiers
ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-025-00309-z
