Article
Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.
Human mutation - 1 Apr 2003
Häberle J, Schmidt E, Pauli S, Rapp B, Christensen E, Wermuth B, Koch H G
Abstract excerpt
Carbamylphosphate synthetase 1 (E.C. 6.3.4.16) deficiency is a rare autosomal recessive disorder of the urea cycle that can result in severe neonatal hyperammonemia. Since the genomic structure of the CPS1 gene was not yet elucidated, mutation detection was performed by analysis of transcripts in the past. Here, we present the entire DNA sequence of the human CPS1 gene including all exon-intron boundaries....
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