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An ANK1 IVS3-2A>C mutation causes exon 4 skipping in two patients from a Chinese family with hereditary spherocytosis
Hereditary spherocytosis (HS) is a congenital hemolytic anemia that affects the cell membrane of red blood cells and is characterized by the presence of spherical-shaped erythrocytes in the peripheral blood film. The clinical manifestation of HS ranges from asymptomatic to severe cases that require...
Autores principales: | Wang, Xiong, Mao, Liyan, Shen, Na, Peng, Jing, Zhu, Yaowu, Hu, Qun, Lu, Yanjun |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Impact Journals LLC
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762591/ https://www.ncbi.nlm.nih.gov/pubmed/29348906 http://dx.doi.org/10.18632/oncotarget.22936 |
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