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Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency |
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| Authors: | Aoshima T Kajita M Sekido Y Kikuchi S Yasuda I Saheki T Watanabe K Shimokata K Niwa T |
| Affiliation: | Department of Pediatrics, Nagoya University School of Medicine,Nagoya, Japan. |
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