Cargando…
Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China
The aim of this study was to perform a molecular diagnosis of hemophilia A (HA) among patients in the Shanxi Province of China. Fifty-two HA patients were tested, including IVS22 (31 samples), IVS1 (3 samples), missense (11 samples), nonsense (3 samples), and 4 cases of frameshift (2 cases of deleti...
Autores principales: | Zhang, Xialin, Chen, Kun, Bian, Sicheng, Wang, Gang, Qin, Xiuyu, Zhang, Ruijuan, Yang, Linhua |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Georg Thieme Verlag KG
2023
|
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10499503/ https://www.ncbi.nlm.nih.gov/pubmed/37711502 http://dx.doi.org/10.1055/s-0043-1774322 |
Ejemplares similares
-
Musculoskeletal ultrasonography for arthropathy assessment in patients with hemophilia: A single-center cross-sectional study from Shanxi Province, China
por: Zhang, Cui-ming, et al.
Publicado: (2018) -
Molecular pathogenesis of a novel Met394Thr variant causing hemophilia B
por: Lu, Linna, et al.
Publicado: (2023) -
Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China
por: Zhou, Yong-An, et al.
Publicado: (2012) -
Descriptions of self-treatment for the middle-aged and elderly in Shanxi, China
por: Wang, Rui, et al.
Publicado: (2018) -
The Seroprevalence of Chlamydia Infection in Sheep in Shanxi Province, China
por: Li, Chen-Xu, et al.
Publicado: (2022)