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Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene |
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| Authors: | Aoshima Tsutomu Kajita Mitsuharu Sekido Yoshitaka Ishiguro Yoshiko Tsuge Ikuya Kimura Masahiko Yamaguchi Seiji Watanabe Kazuyoshi Shimokata Kaoru Niwa Toshimitsu |
| Institution: | Department of Pediatrics, Nagoya University School of Medicine, Nagoya, Japan. |
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