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Reagents, Molecular Assay, Gene Anomaly, Mutation, HSPB1

Definition : Molecular assay reagents intended to identify mutations in the heat shock 27kDa protein 1 (HSPB1) gene, located at chromosome 7q11.23, which encodes for a heat-shock protein beta 1 or protein 27. Mutations at this locus have been identified in patients with early-onset Charcot-Marie-Tooth neuropathy type 2F (CMT2F) and distal hereditary motor neuropathy.

Entry Terms : "Type 2V Charcot-Marie-Tooth Disease Gene Mutation Detection Reagents" , "Distal Hereditary Motor Neuropathy Gene Mutation Detection Reagents" , "Hereditary Neuropathy Gene Mutation Detection Reagents" , "HSPB1 Gene Mutation Detection Reagents"

UMDC code : 24476

   

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