An 84 bp insertion found in a propionic acidaemia patient is not a disease-causing mutation but a product of cryptic mRNA.
Ohura
T
T
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. tohura@ped.med.tohoku.ac.jp
Narisawa
K
K
Tada
K
K
Iinuma
K
K
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D002262:Carboxy-Lyases / Q000172:deficiency / Q000235:genetics*; D002478:Cells, Cultured; D005347:Fibroblasts / Q000166:cytology; D006801:Humans; D043586:Methylmalonyl-CoA Decarboxylase; D016254:Mutagenesis, Insertional; D011422:Propionates / Q000097:blood*; D012333:RNA, Messenger
D011422:Propionates; D012333:RNA, Messenger; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase