尿素サイクル異常症 [DS:H01398]

Kurokawa K, Yorifuji T, Kawai M, Momoi T, Nagasaka H, Takayanagi M, Kobayashi K, Yoshino M, Kosho T, Adachi M, Otsuka H, Yamamoto S, Murata T, Suenaga A, Ishii T, Terada K, Shimura N, Kiwaki K, Shintaku H, Yamakawa M, Nakabayashi H, Wakutani Y, Nakahata T

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.

J Hum Genet 52:349-54 (2007)
DOI:10.1007/s10038-007-0122-9

Finckh U, Kohlschutter A, Schafer H, Sperhake K, Colombo JP, Gal A

Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.

Hum Mutat 12:206-11 (1998)
DOI:10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E