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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2023
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

Internet

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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