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Reagents, Molecular Assay, Gene Anomaly, Mutation, APP

Definition : Molecular assay reagents intended to identify mutations in the amyloid beta (A4) precursor protein (protease nexin-II) (APP) gene, located at chromosome 21q21, which functions as a cell surface receptor and performs physiologic functions on the surface of neurons. Mutations at this locus have been identified in patients with familial (early onset) Alzheimer's disease (AD) type 1, Flemish-type AD, and cerebral hemorrhage with amyloidosis (HCHWAD).

Entry Terms : "Familial Alzheimer's Disease Gene Mutation Detection Reagents" , "Early-onset Familial Alzheimer's Disease (EOFAD) Gene Mutation Detection Reagents" , "Alzheimer Disease Type 1 (AD1) Gene Mutation Detection Reagents" , "Cerebroarterial Amyloidosis Gene Mutation Detection Reagents" , "Dutch Type Cerebroarterial Amyloidosis Gene Mutation Detection Reagents" , "APP Gene Mutation Detection Reagents" , "Alzheimer Disease Diagnostic Reagents"

UMDC code : 24291

   

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