Molecular genetics and pathophysiology of Menkes disease.

Abstract excerpt

The molecular genetics and pathophysiology of Menkes disease and an animal model for this disease are reviewed. The Menkes gene, located on chromosome X13.3, encodes a copper-transporting ATPase, as shown by the sequencing of a cDNA of 4500 bp. Mutations in the Menkes gene in patients with Menkes disease show great variety, including missense, nonsense, deletion and insertion mutations. Mutations in the Menkes...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Copper
• Share to Disease Models, Animal
• Share to Gene Expression