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Duchenne muscular dystrophy caused by a novel deep intronic DMD mutation |
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| Authors: | Matthew R. Ginsberg MD Andrew J. McCarty MS LCGC David Lacomis MD Hoda Z. Abdel‐Hamid MD |
| Affiliation: | 1. Department of Pediatric Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA;2. Department of Laboratory Services, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA;3. Department of Neurology, University of Pittsburgh School of Medicine and UPMC, Pittsburgh, Pennsylvania, USA;4. Department of Pathology (Neuropathology), University of Pittsburgh School of Medicine and UPMC, Pittsburgh, Pennsylvania |
| Abstract: | |
| Keywords: | DMD Duchenne muscular dystrophy intronic mutation splice‐site |