Expanding the ABCD1 mutation spectrum: a novel variant in X-linked adrenomyeloneuropathy
The first reported case of AMN associated with the novel ABCD1 c.1922G > T (p.Gly641Val) variant is described, expanding the mutational spectrum of X-ALD.
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The first reported case of AMN associated with the novel ABCD1 c.1922G > T (p.Gly641Val) variant is described, expanding the mutational spectrum of X-ALD.
Oral anticoagulants (OACs), including vitamin K antagonists and direct OACs, reduce stroke risk in atrial fibrillation (AF), yet breakthrough ischemic stroke still occurs in 1–2% of patients annually despite adequate therapy. The mechanisms underlying these events remain unclear. We aimed to identify potential causes o...
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