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Mutation analysis of the Menkes gene
thesisposted on 2005-01-01, 00:00 authored by Alanna Clare. Castelli
Menkes disease is a copper deficiency caused by mutations in the Menkes gene, which encodes a copper-transporting protein. This study identified the causative mutations in several Menkes patients, which provided a diagnostic test for relatives and identified critical regions of the Menkes protein. Further regions were identified through functional analysis of mutations introduced by in vitro mutagenesis.