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Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn’s syndrome: a case report
INTRODUCTION: The V(D)J rearrangement of B and T cell lymphocytes during the recombination process, which is essential for the development of normal immune system function, depends critically on the presence of the recombination activating enzymes, RAG1 and RAG2. Mutations in RAG1 or RAG2 can lead t...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Cases Network Ltd
2009
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740248/ https://www.ncbi.nlm.nih.gov/pubmed/19830075 http://dx.doi.org/10.4076/1757-1626-2-8391 |