A study on gene mutation in a family with X-linked dyskeratosis congenita
[Objective] To investigate the genetic mutations in a patient and patient′s family members from an X-linked dyskeratosis congenita (X-linked DC) pedigree, in order to provide a biological basis for understanding the pathogenesis and prenatal diagnostic counseling of this disease. [Methods] Clinical...
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| Principais autores: | , , , , |
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| Format: | Artigo |
| Jezik: | Chinês |
| Izdano: |
editoiral office of Journal of Diagnosis and Therapy on Dermato-venereology
2025-09-01
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| Serija: | Pifu-xingbing zhenliaoxue zazhi |
| Teme: | |
| Online dostop: | http://pfxbzlx.gdvdc.com/EN/10.3969/j.issn.1674-8468.2025.09.001 |
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