NAGLU Mutations Underlying Sanfilippo Syndrome Type B

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NAGLU Mutations Underlying Sanfilippo Syndrome Type B Artur Schmidtchen, David Greenberg, Hong G. Zhao, Hong Hua Li, Yan Huang, Phuong Tieu, Hui-Zhi Zhao, Samson Cheng, Zhaoyang Zhao, Chester B. Whitley, Paola Di Natale, Elizabeth F. Neufeld The American Journal of Human Genetics Volume 62, Issue 1, Pages 64-69 (January 1998) DOI: 10.1086/301685 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Map of NAGLU mutations identified in cell lines of Sanfilippo syndrome type B patients. Boxes denote exons (hatched portions denote the coding regions) and are drawn to scale. Blackened triangles denote deletions (503del110 and 901delAA); the blackened square denotes an insertion (652insC); unblackened circles denote nonsense mutations (R203X, R297X, R626X, and Q706X); and blackened circles denote missense mutations (Y92H, P115S, Y140C, E153K, P358L, S612G, A664V, R674H, and L682R). The American Journal of Human Genetics 1998 62, 64-69DOI: (10.1086/301685) Copyright © 1998 The American Society of Human Genetics Terms and Conditions