A Novel Mutation (c.200T>C) in the NAGLU Gene of a Korean Patient with copolysaccharidosis IIIB

Annals of Laboratory Medicine - Tập 33 Số 3 - Trang 221-224 - 2013
Young-Eun Kim1, Hyung‐Doo Park1, Mi‐Ae Jang1, Chang‐Seok Ki1, Soo‐Youn Lee1, Jong‐Won Kim1, Sung Yoon Cho2, Dong‐Kyu Jin2
1Departments of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
2Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

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Annals of Laboratory Medicine

Tập 33 Số 3

221-224

Thông tin tác giả