Analysis of mutations of NF1 gene in three patients with neurofibromatosis type I
[Objective] To detect the gene mutations in three children with neurofibromatosis type1 (NF1), and explore the new pathogenic mutations and phenotypes of NF1. [Methods] Exome sequencing and targeted gene panels were performed in the probands to determine the mutation sites. After detecting suspected...
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| Автори: | , , , , |
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| Формат: | Artigo |
| Мова: | Chinês |
| Опубліковано: |
editoiral office of Journal of Diagnosis and Therapy on Dermato-venereology
2024-12-01
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| Серія: | Pifu-xingbing zhenliaoxue zazhi |
| Предмети: | |
| Онлайн доступ: | http://pfxbzlx.gdvdc.com/EN/10.3969/j.issn.1674-8468.2024.12.003 |
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