Mutation analysis of the Menkes gene

@inproceedings{Castelli2005MutationAO,
  title={Mutation analysis of the Menkes gene},
  author={Alanna Clare. Castelli},
  year={2005}
}
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.