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...

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Detalles Bibliográficos
Autores principales: Wang, Xiong, Mao, Liyan, Shen, Na, Peng, Jing, Zhu, Yaowu, Hu, Qun, Lu, Yanjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Case Report
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

Internet

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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