Associated Papers
ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.
Mhaske A et al.
Computational and Structural Biotechnology Journal, 2020
13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
de Gemmis P et al.
Metabolic Brain Disease, 2017
Changes in body weight and height in survivors of Menkes disease.
Gu YH et al.
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2014
A 2-year-old boy with hypoactivity of neonatal onset and profound developmental delay.
Mizuguchi M et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2007
Identification of three novel mutations in Japanese patients with Menkes disease and mutation screening by denaturing high performance liquid chromatography.
Watanabe A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2005
Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement.
Gu YH et al.
Brain & Development, 2002
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.
Gu YH et al.
American Journal of Medical Genetics, 2001
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