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  • Molecular assay reagents intended to identify mutations in the filamin A, alpha (actin binding protein 280) (FLNA) gene, located at chromosome Xq28, which functions by promoting branching of actin filaments and links actin filaments to membrane glycoproteins. Mutations at this locus have been identified in male patients with periventricular heterotopia; they are also associated with otopalatodigital syndrome type I and Type II and periventricular nodular heterotopia.
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