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一个遗传性出血性毛细血管扩张症家系的基因分析
OBJECTIVE: To study the mutation of ENG, ACVRL1, and SMAD4 genes in one of a family of hereditary hemorrhagic telangiectasia (HHT) and explore its molecular pathogenesis. METHODS: A family spectrum of a patient with a clinical diagnosis of HHT was surveyed. Peripheral blood samples from proband and...
| Formato: | Online Artículo Texto |
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| Lenguaje: | English |
| Publicado: |
Editorial office of Chinese Journal of Hematology
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7342918/ https://www.ncbi.nlm.nih.gov/pubmed/30032563 http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2018.06.007 |