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Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay |
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| Authors: | Jenkins Dagan Baynam Gareth De Catte Luc Elcioglu Nursel Gabbett Michael T Hudgins Louanne Hurst Jane A Jehee Fernanda Sarquis Oley Christine Wilkie Andrew O M |
| Institution: | Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom. |
| Abstract: | |
| Keywords: | RAB23 acrocephalopolysyndactyly syndrome nonsense mediated mRNA decay switch domain |
| 本文献已被 PubMed 等数据库收录！ | |