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

Human Mutation

Volumn 12, Issue 3, 1998, Pages 206-211

  Finckh, Ulrich ^a   Kohlschütter, Alfried ^a   Schäfer, Hansjörg ^a   Sperhake, Katja ^a   Colombo, Jean Pierre ^b   Gal, Andreas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY OF BERN   (Switzerland)

Author keywords

Carbamoyl phosphate synthetase I deficiency; cDNA sequence; CPS1; Histopathology; Prenatal diagnosis; T544M mutation

Indexed keywords

CARBAMOYL PHOSPHATE SYNTHASE;

ARTICLE; CLINICAL EXAMINATION; CONSANGUINEOUS MARRIAGE; ENZYME DEFICIENCY; GENE SEQUENCE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0031880377     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E     Document Type: Article

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