> Reagents, Molecular Assay, Gene Anomaly, Mutation, FLNA
Reagents, Molecular Assay, Gene Anomaly, Mutation, FLNA
Definition : 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.
Entry Terms : "Heterotopia Otopalatodigital Syndrome Gene Mutation Detection Reagents" , "Bilateral Periventricular Nodular Heterotopia (BPNH) Gene Mutation Detection Reagents" , "Periventricular Nodular Heterotopia Gene Mutation Detection Reagents" , "X-Linked Periventricular Heterotopia Gene Mutation Detection Reagents" , "Periventricular Heterotopia Gene Mutation Detection Reagents" , "FLNA Gene Mutation Detection Reagents"
UMDC code : 24432
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