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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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| Authors: | A Ogawa S Yamamoto M Kanazawa E Ogawa M Takayanagi S Hasegawa Y Kohno |
| Institution: | (1) Department of Pediatrics, Chiba University School of Medicine, 1-8-1 Inohana, Chuou-ku, Chiba-shi, Chiba 260-8670, Japan Tel. +81-43-226-2144; Fax +81-43-226-2145 e-mail: aogawa@pediat3.m.chiba-u.ac.jp, JP;(2) Division of Metabolism, Chiba Children's Hospital, Chiba, Japan, JP;(3) Chiba City Institute of Health and Environment, Chiba, Japan, JP |
| Abstract: | |
| Keywords: | Menkes disease ATP7A gene MNK gene Mutation Polymorphism |
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