Associated Papers
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
Tümer Z
Human Mutation, 2013
X-linked recessive Menkes disease: carrier detection in the case of a partial gene deletion.
Poulsen L et al.
Clinical Genetics, 2002
Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population.
Ogawa A et al.
Journal of Human Genetics, 2000
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