Reagents, Molecular Assay, Gene Anomaly, Mutation, COCH
Definition : Molecular assay reagents intended to identify mutations in the coagulation factor C homologue (COCH) gene, located at chromosome 14q12-q13, which encodes for a protein called cochlin that is involved in the structure of the inner ear. Mutations at this locus have been identified in patients with autosomal dominant nonsyndromic sensorineural 9 deafness (DFNA9); the exact effects of COCH mutations are unclear.
Entry Terms : "Type 9 Congenital Deafness Gene Mutation Detection Reagents" , "COCH Gene Mutation Detection Reagents"
UMDC code : 24353