Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.
Oppliger Leibundgut
E
E
Department of Clinical Chemistry, University of Berne, Switzerland.
Liechti-Gallati
S
S
Colombo
J P
JP
Wermuth
B
B
D017668:Age of Onset; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000641:Ammonia / Q000097:blood; D002648:Child; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D020163:Ornithine Carbamoyltransferase Deficiency Disease
D000641:Ammonia