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Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1 |
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| Authors: | Matt Wenham Samantha Grieve Michelle Cummins Matthew L. Jones Sarah Booth Rachel Kilner Philip J. Ancliff Gillian M. Griffiths Andrew D. Mumford |
| Affiliation: | 1 Cambridge Institute for Medical Research, University of Cambridge, Cambridge;2 Sir William Dunn School of Pathology, University of Oxford, Oxford;3 Bristol Royal Hospital for Children, Bristol;4 Department of Physiology and Pharmacology, University of Bristol, Bristol;6 Great Ormond St Hospital for Children NHS Trust, London;7 Bristol Heart Institute, University of Bristol, Bristol, UK |
| Abstract: | |
| Keywords: | Hermansky Pudlak syndrome mutations AP3B1 |