A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.
Gilbert-Dussardier
B
B
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U 393 Hôpital des Enfants-Malades, Paris, France.
Rabier
D
D
Strautnieks
S
S
Segues
B
B
Bonnefont
J P
JP
Munnich
A
A
D017668:Age of Onset; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D000595:Amino Acid Sequence; D000641:Ammonia / Q000097:blood; D001483:Base Sequence; D002648:Child; D004277:DNA, Single-Stranded / Q000235:genetics; D005091:Exons; D017809:Fatal Outcome; D005796:Genes; D006801:Humans; D007223:Infant; D007700:Kinetics; D008099:Liver / Q000201:enzymology; D008297:Male; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D017354:Point Mutation; D011110:Polymorphism, Genetic; D016415:Sequence Alignment
D004277:DNA, Single-Stranded; D000641:Ammonia; D009954:Ornithine Carbamoyltransferase