Five novel globin gene mutations identified in five Chinese families by next‐generation sequencing

BACKGROUND: Thalassemia is one of the most common inherited diseases worldwide. This report presents three novel cases of α‐thalassemia and two novel cases of β‐thalassemia caused by five different mutations in the globin gene. METHODS: Next‐generation sequencing (NGS) was used to identify novel α‐...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Jie, Xie, Meijuan, Peng, Zhiyu, Zhou, Xiaoyan, Zhao, Tingting, Jin, Chanchan, Yan, Yuanlong, Zeng, Xiaohong, Li, Dongmei, Zhang, Yangjia, Su, Jie, Feng, Na, He, Jing, Yao, Xiangmei, Lv, Tao, Zhu, Baosheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683637/
https://www.ncbi.nlm.nih.gov/pubmed/34708592
http://dx.doi.org/10.1002/mgg3.1835

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683637/
https://www.ncbi.nlm.nih.gov/pubmed/34708592
http://dx.doi.org/10.1002/mgg3.1835

Ejemplares similares