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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...
Autores principales: | Szaflarska, Anna, Rutkowska-Zapała, Magdalena, Kotula, Monika, Gruca, Anna, Grabowska, Agnieszka, Lenart, Marzena, Surman, Marta, Trzyna, Elżbieta, Mordel, Anna, Pituch-Noworolska, Anna, Siedlar, Maciej |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5334423/ https://www.ncbi.nlm.nih.gov/pubmed/28083621 http://dx.doi.org/10.1007/s00005-016-0447-1 |
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