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Novel mutatıons and diverse clinical phenotypes in recombınase-activating gene 1 deficiency
BACKGROUND: Severe combined immunodeficiency is within a heterogeneous group of inherited defects throughout the development of T- and/or B-lymphocytes. Mutations in recombinase-activating genes 1 or 2 (RAG1/2) represent approximately 10% of all SCID cases. RAG1/2 are essential for V(D)J rearrangeme...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3394211/ https://ncbi.nlm.nih.gov/pubmed/22424479 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1824-7288-38-8 |
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