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Reagents, Molecular Assay, Gene Anomaly, Mutation, AR

Definition : Molecular assay reagents intended to identify mutations in the androgen receptor (dihydrotestosterone receptor) (AR) gene, located at chromosome Xq11.21-q12.1, which encodes for a protein that functions as a steroid-hormone-activated transcription factor. Mutations at this locus have been identified in patients with androgen insensitivity syndrome (formerly testicular feminization syndrome), including Reifenstein's syndrome, and X-linked spinal and bulbar muscular atrophy.

Entry Terms : "Mild Androgen Insensitivity Syndrome (MAIS) Gene Mutation Detection Reagents" , "Partial Androgen Insensitivity Syndrome (PAIS) Gene Mutation Detection Reagents" , "Complete Androgen Insensitivity Syndrome (CAIS) Gene Mutation Detection Reagents" , "Testicular Feminization (TFM) Gene Mutation Detection Reagents" , "Androgen Resistance Syndrome Gene Mutation Detection Reagents" , "Androgen Insensitivity Syndrome (AIS) Gene Mutation Detection Reagents" , "AR Gene Mutation Detection Reagents"

UMDC code : 24295

   

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