Article
13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
Metabolic brain disease - 1 Aug 2017
de Gemmis Paola, Enzo Maria Vittoria, Lorenzetto Elisa, Cattelan Paola, Segat Daniela, Hladnik Uros
Abstract excerpt
ATP7A is a copper-transporting P-type adenosine triphosphatase whose loss of function leads to the Menkes disease, an X-linked copper metabolism multi-organ disorder (1 in 100.000 births). Here we document our experience with the ATP7A linked diseases in Italy. We analyzed the exonic structure of the ATP7A gene in 25 unrelated Italian families and studied the variants of unknown significance. We identified 22...
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