Home > Specialties > Reagents, Molecular Assay, Gene Anomaly, Mutation, ATPT7A

Reagents, Molecular Assay, Gene Anomaly, Mutation, ATPT7A

Definition : Molecular assay reagents intended to identify mutations in the copper-transporting, alpha polypeptide (ATP7A) gene, located at chromosome Xq13.2-q13.3, which encodes for a protein that regulates copper levels in the body. Mutations at this locus have been identified in male patients with Menke's syndrome.

Entry Terms : "Ehlers-Danlos Syndrome Type IX Gene Mutation Detection Reagents" , "Occipital Horn Syndrome Gene Mutation Detection Reagents" , "Menkes Disease Gene Mutation Detection Reagents" , "ATPT7A Gene Mutation Detection Reagents" , "ATP7A Gene Mutation Detection Reagents"

UMDC code : 24304

   

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