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

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Citation

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(2):99-101.

PubMed ID
11474210 [ View in PubMed
]
Abstract

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Polypeptides
NameUniProt ID
Carbamoyl-phosphate synthase [ammonia], mitochondrialP31327Details