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Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants
This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological findings from 2016 to 2019. Patients with a sugge...
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| Опубликовано в: : | Sci Rep |
|---|---|
| Главные авторы: | , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group UK
2021
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7864965/ https://ncbi.nlm.nih.gov/pubmed/33547378 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-82778-0 |
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