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Clinical expression of Menkes disease in females with normal karyotype.

Archive ouverte | Møller, Lisbeth, Birk | CCSD

International audience. ABSTRACT: BACKGROUND: Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are...

Mutations in the connexin 32 gene in X-linked dominant Charcot—Marie—Tooth disease (CMTX1)

Archive ouverte | Fairweather, Nicholas | CCSD

International audience

A Golgi localization signal identified in the Menkes recombinant protein

Archive ouverte | Francis, Michael J. | CCSD

Menkes disease arises from a genetic impairment in copper transport. The gene responsible for the phenotype has been identified as a copper transporting ATPase ( ATP7A ). Recently, the protein encoded by the ATP7A gene has been lo...

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