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Case Reports
. 2001;52(2):99-101.
doi: 10.1159/000053360.

Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency

T Aoshima  1 , M Kajita, Y Sekido, S Kikuchi, I Yasuda, T Saheki, K Watanabe, K Shimokata, T Niwa
Affiliations
Case Reports

Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency

T Aoshima et al. Hum Hered. 2001.
No abstract available

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