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  • Molecular assay reagents intended to identify mutations in the early growth response 2 (EGR2) gene, located at chromosome 10q21.1-q22.1, which encodes for a member of the early growth response family of proteins. The gene activates genes involved in the formation and maintenance of myelin. Mutations at this locus have been identified in patients with recessive congenital hypomyelination neuropathy (CHN), also known as Charcot-Marie-Tooth disease type 4E (CMT4E) and type ID (Dejerine-Sottas syndrome).
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