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Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study
Dystrophinopathy is a group of inherited phenotypes arising from pathogenic variants in DMD. We evaluated the clinical and genetic characteristics of Korean patients with genetically confirmed dystrophinopathy. We retrospectively reviewed medical records (January 2004-September 2020) from the myopat...
Autores principales: | Yun, UnKyu, Lee, Seung-Ah, Choi, Won Ah, Kang, Seong-Woong, Seo, Go Hun, Lee, Jung Hwan, Park, Goeun, Lee, Sujee, Choi, Young-Chul, Park, Hyung Jun |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8301650/ https://www.ncbi.nlm.nih.gov/pubmed/34297739 http://dx.doi.org/10.1371/journal.pone.0255011 |
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