Adelaide Research & Scholarship
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https://hdl.handle.net/2440/102896
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| Type: | Journal article |
| Title: | Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum |
| Author: | Sukalo, M. Fiedler, A. Guzman, C. Spranger, S. Addor, M. Mcheik, J. Benavent, M. Cobben, J. Gillis, L. Shealy, A. Deshpande, C. Bozorgmehr, B. Everman, D. Stattin, E. Liebelt, J. Keller, K. Bertola, D. van Karnebeek, C. Bergmann, C. Liu, Z. et al. |
| Citation: | Human Mutation, 2014; 35(5):521-531 |
| Publisher: | Wiley |
| Issue Date: | 2014 |
| ISSN: | 1098-1004 1098-1004 |
| Statement of Responsibility: | Maja Sukalo ... Jan Liebelt .. et al. |
| Abstract: | Abstract not available |
| Keywords: | Johanson-Blizzard syndrome; UBR1; exocrine pancreatic insufficiency; aplasia of alae nasi; cognitive impairment |
| Rights: | © 2014 Wiley Periodicals, Inc. |
| DOI: | 10.1002/humu.22538 |
| Published version: | http://dx.doi.org/10.1002/humu.22538 |
| Appears in Collections: | Aurora harvest 7 Medicine publications |
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