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Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1
Ulrich Finckh, Alfried Kohlschütter, Hansjörg Schäfer, Katja Sperhake, Jean-Pierre Colombo, Andreas GalVolume:
12
Year:
1998
Language:
english
Pages:
6
DOI:
10.1002/(sici)1098-1004(1998)12:33.0.co;2-e
File:
PDF, 597 KB
english, 1998