A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient.
Touraine
R L
RL
Hôpital Debrousse, Lyon, France.
Rolland
M O
MO
Divry
P
P
Mathieu
M
M
Guibaud
P
P
Bozon
D
D
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000032:analysis; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008765:Methylmalonyl-CoA Mutase / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
D004247:DNA; D008765:Methylmalonyl-CoA Mutase