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Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency
Authors:Cho S Y  Park H-D  Lee Y-W  Ki C-S  Lee S-Y  Sohn Y B  Park S W  Kim S H  Ji S  Kim S J  Choi E W  Kim C H  Ko A-r  Paik K-H  Lee D H  Jin D-K
Affiliation:1. Departments of Pediatrics;2. Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea;3. Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital and Soonchunhyang University College of Medicine, Bucheon, Korea;4. Center of Pediatric Oncology, National Cancer Center, Goyang, Korea;5. Laboratory Animal Research Center;6. Clinical Research Center, Samsung Biomedical Research Institute, Seoul, Korea;7. Department of Pediatrics, Soonchunhyang University College of Medicine, Seoul, Korea
Abstract:
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