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...

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Detalles Bibliográficos
Autores principales: Zhang, Honghong, Li, Yinjie, Lv, Xiaojuan, Mao, Yuchan, Sun, Yixi, Xu, Ting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
3500
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

Internet

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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