Reagents, Molecular Assay, Gene Anomaly, Mutation, ATRX
Definition : Molecular assay reagents intended to identify mutations in the alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene, located at chromosome Xq13, which takes part in the global transcriptional regulation function, modifies gene expression by affecting chromatin, and may be involved in brain development and face morphogenesis. Mutations at this locus have been identified in most patients with X-linked alpha-thalassemia, repining syndrome 1 (reno 1), Carpenter-Waziri syndrome (CWS), and alpha-thalassemia myelodysplasia syndrome (ATMDS).
Entry Terms : "Hypotonic Face Syndrome Gene Mutation Detection Reagents" , "X-Linked Alpha Thalassemia/Mental Retardation Gene Mutation Detection Reagents" , "Alpha-Thalassemia X-Linked Mental Retardation (ATRX) Syndrome Gene Mutation Detection Reagents" , "Thalassemia Gene Mutation Detection Reagents" , "ATRX Gene Mutation Detection Reagents" , "Thalassemia Diagnostic Reagents" , "Reagents, Molecular Assay, Inborn Disorder, Monogenic, Thalassemia" , "Thalassemia Determination Reagents"
UMDC code : 24306