Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1 (Q24329229)

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Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1
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    Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1 (English)
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    U Finckh
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    A Kohlschütter
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    H Schäfer
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    K Sperhake
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    J P Colombo
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    A Gal
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    1998
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    12
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    3
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    206-11
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