13 novel putative mutations in ATP7A found in a cohort of 25 Italian families
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DOI: 10.1007/s11011-017-0010-8
Abstract: 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… read more here.
Keywords: putative mutations; mutations atp7a; novel putative; italian families ... See more keywords