Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
Gilbert-Dussardier
B
B
INSERM U 393, Department of Genetics, Hôpital des Enfants Malades, Paris.
Segues
B
B
Rozet
J M
JM
Rabier
D
D
Calvas
P
P
de Lumley
L
L
Bonnefond
J P
JP
Munnich
A
A
D017668:Age of Onset; D000641:Ammonia / Q000097:blood*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics*; D005810:Multigene Family; D009954:Ornithine Carbamoyltransferase / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D017384:Sequence Deletion
D000641:Ammonia; D009954:Ornithine Carbamoyltransferase