Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitlePrenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.AuthorsFinckh, Ulrich; Kohlschütter, Alfried; Schäfer, Hansjörg; Sperhake, Katja; Colombo, Jean-Pierre; Gal, AndreasPublicationHuman Mutation, 1998, Vol 12, Issue 3, p206ISSN1059-7794Publication typeArticleDOI10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E