Case Report: Whole exome sequencing identifies variation c.2308G>A p.E770K in RAG1 associated with B- T- NK+ severe combined immunodeficiency

Severe combined immunodeficiency is a large clinically heterogeneous group of disorders caused by a defect in the development of humoral or cellular immune responses. At least 13 genes are known to be involved in the pathophysiology of the disease and the mutation spectrum in SCID has been well docu...

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Detalles Bibliográficos
Autores principales: Govindaraj, Geeta Madathil, Karuthedath Vellarikkal, Shamsudheen, Jayarajan, Rijith, Ravi, Rowmika, Verma, Ankit, Chakkiyar, Krishnan, Jayakrishnan, Machinari Puthenpurayil, Arakkal, Riyaz, Raj, Revathi, Kunnaruvath, Rajeevan, Sivasubbu, Sridhar, Scaria, Vinod
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5635439/
https://www.ncbi.nlm.nih.gov/pubmed/29067161
http://dx.doi.org/10.12688/f1000research.9473.2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5635439/
https://www.ncbi.nlm.nih.gov/pubmed/29067161
http://dx.doi.org/10.12688/f1000research.9473.2

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