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Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia |
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| Authors: | Velina Guergueltcheva MD PhD Vanio Mitev MD PhD DSc Dimitar N. Azmanov MD PhD Luba Kalaydjieva MD PhD Albena Jordanova PhD |
| Affiliation: | 1. Department of Neurology, Medical University‐Sofia, Sofia, Bulgaria;2. Department of Medical Chemistry and Biochemistry, Molecular Medicine Center, Medical University‐Sofia, Sofia, Bulgaria;3. Department of Diagnostic Genomics, PathWest, QEII Medical Centre, Nedlands, WA, Australia;4. Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia |
| Abstract: | |
| Keywords: | TUBB4A H‐ABC hereditary spastic paraplegia mosaicism |