Article
Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis.
Molecular genetics and metabolism - 1 May 2001
Hahn S, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O
Abstract excerpt
Menkes disease is an X-linked recessive disorder of the copper metabolism and affected males suffer a systemic copper deficiency due to malabsorption and defective distribution of dietary copper. It is caused by a defect in the Menkes (ATP7A) gene, which encodes a transmembrane copper-transporting P-type ATPase. A variety of mutations were reported; however, only a few mutations were reported in Asian patients....
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