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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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2017
Materias:
Original Article
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

Internet

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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