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Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1

Naoki Takegami1, Takashi Matsukawa1, Masashi Hamada1

  • 1Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.

Internal Medicine (Tokyo, Japan)
|August 9, 2023
PubMed

Keywords:
ABCD1RNAadrenoleukodystrophyadrenomyeloneuropathynonsense-mediated mRNA decay

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