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IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, EDAR

Definition : Molecular assay reagents intended to identify mutations in the ectodysplasin A receptor (EDAR) gene, located at chromosome 2q11-q13, which encodes for a protein that acts as a receptor for EDA isoform A1. This interaction is responsible for critical chemical signaling pathways controlling interactions between the ectoderm and mesoderm in embryos. Other reports suggest a role in caspase-independent cell death. Mutations at this locus have been identified in children with early-onset hypohidrotic ectodermic dysplasia (HED).

Entry Terms : "Autosomal Recessive Hypohidrotic Ectodermal Dysplasia (XLHED) Gene Mutation Detection Reagents" , "Christ-Siemens-Touraine Syndrome Gene Mutation Detection Reagents" , "Anhydrotic Ectodermal Dysplasia Gene Mutation Detection Reagents" , "Hypohidrotic Ectodermal Dysplasia (HED) Gene Mutation Detection Reagents" , "EDAR Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, EDAR"

UMDC code : 24389

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ACROBiosystems Inc

Company Type: Parent

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