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Title: Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population
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Journal of Human Genetics [1434-5161] Ogawa, A yr:2000


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1. Gu, Yan-Hong H. "ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome." American journal of medical genetics 99.3 (2001): 217-222. Link to Full Text for this item Link to SFX for this item
2. Ozawa, H. "Transient temporal lobe changes and a novel mutation in a patient with Menkes disease." Pediatrics international 43.4 (2001): 437-440. Link to Full Text for this item Link to SFX for this item
3. Hahn, S. "Identification of four novel mutations in classical menkes disease and successful prenatal DNA diagnosis." Molecular genetics and metabolism 73.1 (2001): 86-90. Link to Full Text for this item Link to SFX for this item
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