Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations

Mutations in RAG1 gene may result in different types of severe combined immunodeficiencies. In this study, we compare clinical symptoms and laboratory findings in four children with identical mutation in RAG1 gene. All of analyzed patients presented symptoms of severe combined immunodeficiencies ass...

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Detalhes bibliográficos
Publicado no:Arch Immunol Ther Exp (Warsz)
Main Authors: Szaflarska, Anna, Rutkowska-Zapała, Magdalena, Kotula, Monika, Gruca, Anna, Grabowska, Agnieszka, Lenart, Marzena, Surman, Marta, Trzyna, Elżbieta, Mordel, Anna, Pituch-Noworolska, Anna, Siedlar, Maciej
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2017
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5334423/
https://ncbi.nlm.nih.gov/pubmed/28083621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00005-016-0447-1
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