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八例先天性角化不良伴骨髓衰竭患儿的临床特征及基因分析

OBJECTIVE: To summary clinical and genetic features of childhood dyskeratosis congenital (DC) patients with bone marrow failure. METHODS: The clinical data of 8 DC patients with bone marrow failure diagnosed between September 2010 and September 2015 were collected. Whole exons with flanking regions...

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Detalles Bibliográficos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Editorial office of Chinese Journal of Hematology 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7342957/
https://www.ncbi.nlm.nih.gov/pubmed/27033759
http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2016.03.008