Associated Papers
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
Tümer Z
Human Mutation, 2013
Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein.
Kim BE et al.
Journal of Medical Genetics, 2007
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.
Møller LB et al.
Human Mutation, 2005
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