Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients.
Pérez-Cerdá
C
C
Dept de Biología Molecular, Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Spain.
Rodríguez-Pombo
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P
Ugarte
M
M
D000483:Alleles; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D002262:Carboxy-Lyases / Q000172:deficiency*; D004252:DNA Mutational Analysis; D006801:Humans; D043586:Methylmalonyl-CoA Decarboxylase; D016133:Polymerase Chain Reaction; D011422:Propionates / Q000097:blood*; D017384:Sequence Deletion; D013030:Spain
D011422:Propionates; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase