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先天性红细胞生成异常性贫血Ⅱ型SEC23B基因新发突变位点一例报告及文献复习

OBJECTIVE: To enrich the gene mutation sites and accumulate treatment experience of congenital dyserythropoietic anemia (CDA) type Ⅱ by reporting one case of CDA patient with new mutation site of SEC23B and was successfully treated by homozygous allogeneic hematopoietic stem cell transplantation (al...

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Detalles Bibliográficos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Editorial office of Chinese Journal of Hematology 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7343017/
https://www.ncbi.nlm.nih.gov/pubmed/31104444
http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2019.04.010