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Molecular analysis of a large novel deletion causing α(+)-thalassemia

BACKGROUND: α-thalassaemia is an inherited blood disorder caused by mutations in the α-globin gene cluster. Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to thalassaemia’s diagnosis and management. METHODS: A family with α-thalassaemia...

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Detalles Bibliográficos
Autores principales: Zhuang, Jianlong, Tian, Jie, Wei, Jitao, Zheng, Yu, Zhuang, Qianmei, Wang, Yuanbai, Xie, Qingyue, Zeng, Shuhong, Wang, Geng, Pan, Yanchao, Jiang, Yuying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501318/
https://www.ncbi.nlm.nih.gov/pubmed/31060505
http://dx.doi.org/10.1186/s12881-019-0797-8