A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy

Hepatology

Volumn 24, Issue 6, 1996, Pages 1413-1415

  Schimanski, Ulrike ^a   Krieger, Derk ^a   Horn, Markus ^a   Stremmel, Wolfgang ^a   Wermuth, Bendicht ^b   Theilmann, Lorenz ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY OF BERN   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; NUCLEOTIDE; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME XP; ENZYME DEFICIENCY; FEMALE; FIRST TRIMESTER PREGNANCY; FRAMESHIFT MUTATION; GENE DELETION; HUMAN; HUMAN TISSUE; HYPERAMMONEMIA; INBORN ERROR OF METABOLISM; LIVER FUNCTION; PRIORITY JOURNAL; UREA CYCLE; X CHROMOSOMAL INHERITANCE;

EID: 0029908490     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1053/jhep.1996.v24.pm0008938172     Document Type: Article

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