Novel Mutations (H337R and 238–362del) in the <i>CPS1</i> Gene Cause Carbamoyl Phosphate Synthetase I Deficiency

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Aoshima T, Kajita M, Sekido Y, Kikuchi S, Yasuda I, Saheki T, Watanabe K, Shimokata K, Niwa T:
Novel Mutations (H337R and 238-362del) in the CPS1 Gene Cause Carbamoyl Phosphate Synthetase I Deficiency.
Hum Hered 2001;52:99-101 (DOI: 10.1159/000053360)

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