Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Ca...
Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy
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Publisher
Switzerland: MDPI AG
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Language
English
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Switzerland: MDPI AG
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Contents
The progressive neurometabolic disorder X-linked adrenoleukodystrophy (ALD) is caused by pathogenic variants in the
gene, which encodes the peroxisomal ATP-binding transporter for very-long-chain fatty acids. The clinical spectrum of ALD includes adrenal insufficiency, myelopathy, and/or leukodystrophy. A complicating factor in disease managemen...
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Full title
Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy
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TN_cdi_doaj_primary_oai_doaj_org_article_a52cf88e7e674272a92402a0bafc2c66
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a52cf88e7e674272a92402a0bafc2c66
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ISSN
2073-4409
E-ISSN
2073-4409
DOI
10.3390/cells11020283
