Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population
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DOI: 10.3389/fneur.2023.1126729
Abstract: Background As a rare genetic disease, adrenomyeloneuropathy (AMN) is the most common adult phenotype of X-linked adrenoleukodystrophy (X-ALD). Mutations in the ABCD1 gene have been identified to cause AMN. Methods We applied clinical evaluation, laboratory… read more here.
Keywords: mutations abcd1; three patients; abcd1 gene; chinese population ... See more keywords