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...

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Detalles Bibliográficos
Autores principales: Al Balwi, Mohammed, Al Ajaji, Sulaiman, Al Abdulkareem, Ibrahim, Hajeer, Ali
Formato: Texto
Lenguaje:English
Publicado: Cases Network Ltd 2009
Materias:
Case report
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

Internet

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

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