Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, EYA1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, EYA1

Definition : Molecular assay reagents intended to identify mutations in the eyes absent homolog 1 (EYA1) gene, located at chromosome 8q13.3, which is thought to play a role in organogenesis through its intrinsic protein phosphatase activity. Mutations at this locus have been identified in patients with branchio-oto-renal (BOR) syndrome, also known as Melnick-Fraser syndrome.

Entry Terms : "Branchio-otic (BO) Syndrome Gene Mutation Detection Reagents" , "Branchio-otorenal (BOR) Syndrome Gene Mutation Detection Reagents" , "EYA1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, EYA1"

UMDC code : 24406

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