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Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing
Background Hemophilia A (HA) is the most frequently occurring X-linked bleeding disorder caused by heterogeneous variants in the F8 gene, one of the largest genes known. Conventional molecular analysis of F8 requires a combination of assays, usually including long-range polymerase chain reaction (L...
Autores principales: | Liu, Yingdi, Li, Dongzhi, Yu, Dongyi, Liang, Qiaowei, Chen, Guilan, Li, Fucheng, Gao, Lu, Li, Zhuo, Xie, Tiantian, Wu, Le, Mao, Aiping, Wu, Lingqian, Liang, Desheng |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Georg Thieme Verlag KG
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10686748/ https://www.ncbi.nlm.nih.gov/pubmed/37285902 http://dx.doi.org/10.1055/a-2107-0702 |
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