Identification of a novel de novo ANK1 R1426* nonsense mutation in a Chinese family with hereditary spherocytosis by NGS

Hereditary spherocytosis (HS) is an inherited heterogeneous hemolytic anemia, characterized by the presence of spherical-shaped erythrocytes on the peripheral blood smear, and the clinical manifestation ranges from asymptomatic to severely anemic, and transfusion-dependent patients. Mutations in at...

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Detalles Bibliográficos
Autores principales: Wang, Xiong, Yi, Bin, Mu, Ketao, Shen, Na, Zhu, Yaowu, Hu, Qun, Lu, Yanjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722523/
https://www.ncbi.nlm.nih.gov/pubmed/29228571
http://dx.doi.org/10.18632/oncotarget.18243

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722523/
https://www.ncbi.nlm.nih.gov/pubmed/29228571
http://dx.doi.org/10.18632/oncotarget.18243

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