A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
Ségues
B
B
Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Département de Pédiatrie, Hôpital des Enfants-Malades, Paris.
Veber
P S
PS
Rabier
D
D
Calvas
P
P
Saudubray
J M
JM
Gilbert-Dussardier
B
B
Bonnefont
J P
JP
Munnich
A
A
D000293:Adolescent; D017668:Age of Onset; D000641:Ammonia / Q000097:blood*; D003128:Coma / Q000209:etiology* / Q000235:genetics; D005091:Exons; D005260:Female; D018698:Glutamic Acid; D006801:Humans; D008297:Male; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D010375:Pedigree; D016133:Polymerase Chain Reaction; D016364:Reading Frames; D017384:Sequence Deletion
D018698:Glutamic Acid; D000641:Ammonia; D009954:Ornithine Carbamoyltransferase