Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency.
Maddalena
A
A
Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, Philadelphia.
Sosnoski
D M
DM
Berry
G T
GT
Nussbaum
R L
RL
D001483:Base Sequence; D002460:Cell Line; D002675:Child, Preschool; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D006801:Humans; D008297:Male; D009030:Mosaicism; D009693:Nucleic Acid Hybridization; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease
D004247:DNA; D009954:Ornithine Carbamoyltransferase; D004262:DNA Restriction Enzymes