Carbamoyl phosphate synthetase I deficiency: Molecular genetic findings and prenatal diagnosis

Prenatal Diagnosis

Volumn 21, Issue 8, 2001, Pages 634-637

  Aoshima, Tsutomu ^a   Kajita, Mitsuharu ^a   Sekido, Yoshitaka ^b   Mimura, Shunji ^a   Itakura, Atsuo ^a   Yasuda, Izumi ^c   Saheki, Takeyori ^c   Watanabe, Kazuyoshi ^a   Shimokata, Kaoru ^b   Niwa, Toshimitsu ^b  

^a NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NAGOYA UNIVERSITY HOSPITAL   (Japan)

^c KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

Carbamoyl phosphate synthetase I deficiency; LightCycler; Multiplex PCR; Mutation; Prenatal diagnosis

Indexed keywords

CARBAMOYL PHOSPHATE SYNTHASE; COMPLEMENTARY DNA;

AMNION CELL; ARTICLE; CASE REPORT; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME ASSAY; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HYPERAMMONEMIA; MALE; MOLECULAR GENETICS; NEWBORN; POINT MUTATION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RNA SPLICING;

CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE; DIAGNOSIS, DIFFERENTIAL; DNA PRIMERS; FEMALE; GLUCOSYLTRANSFERASES; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS; SCHIZOSACCHAROMYCES POMBE PROTEINS;

EID: 0034843299     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.123     Document Type: Article

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