Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy
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DOI: 10.1111/cge.14752
Abstract: X‐linked adrenoleukodystrophy (X‐ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene. We reported the clinical features and genetic findings of 17 X‐ALD patients. Fifteen variants were identified, including five novel mutations: c.700dupC… read more here.
Keywords: variants linked; adrenoleukodystrophy; ald; abcd1 variants ... See more keywords