ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome

• 12 February 2001
• journal article
• research article
• Published by Wiley in American Journal of Medical Genetics
• Vol. 99  (3) , 217-222
• https://doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1167>3.0.co;2-r

Abstract

Keywords

• MENKES DISEASE
• OCCIPITAL HORN SYNDROME
• ATP7A
• MUTATION
• POLYMORPHISM
• COPPER
• CERULOPLASMIN