Identification of a Novel Mutation in theMCCC2Gene of a Korean Patient with 3-Methylcrotonyl-CoA Carboxylase Deficiency

김병철·이동환·기창석·박형두·최태윤·신정원·이용화 Byung Chul Kim, Dong Hwan Lee, Chang-Seok Ki, Hyung-Doo Park, Tae-Youn Choi, Jeong Won Shin, Yong-Wha Lee 순천향대학교 서울병원 진단검사의학과 · 소아과, 성균관대학교 의과대학 삼성서울병원 진단검사의학과, 순천향대학교 부천병원 진단검사의학과 Departments of Laboratory Medicine and Pediatrics, Soonchunhyang University Seoul Hospital and Soonchunhyang University College of Medicine, Seoul; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital and Soonchunhyang University College of Medicine, Bucheon, Korea 증례 Lab Med Online Vol. 1, No. 2: 115-119, April 2011 DOI 10.3343/lmo.2011.1.2.9 진단유전학