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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Detalles Bibliográficos
Autores principales: Kutukculer, Necil, Gulez, Nesrin, Karaca, Neslihan Edeer, Aksu, Guzide, Berdeli, Afig
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3394211/
https://www.ncbi.nlm.nih.gov/pubmed/22424479
http://dx.doi.org/10.1186/1824-7288-38-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3394211/
https://www.ncbi.nlm.nih.gov/pubmed/22424479
http://dx.doi.org/10.1186/1824-7288-38-8

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