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A novel F8 variant in a Chinese hemophilia A family and involvement of X-chromosome inactivation: A case report
Hemophilia A (HA) is an X-linked recessive bleeding disorder, which shows factor VIII (FVIII) deficiency caused by genetic variant in F8 gene. PATIENT CONCERNS: Males with F8 variants are affected, whereas female carriers with a wide range of FVIII levels are usually asymptomatic, it is possible tha...
Autores principales: | Zhang, Honghong, Li, Yinjie, Lv, Xiaojuan, Mao, Yuchan, Sun, Yixi, Xu, Ting |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158889/ https://www.ncbi.nlm.nih.gov/pubmed/37145012 http://dx.doi.org/10.1097/MD.0000000000033665 |
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