Associated Papers
Data on the evolutionary history of the V(D)J recombination-activating protein 1 - RAG1 coupled with sequence and variant analyses.
Kumar A et al.
Data in Brief, 2016
27284568 (PubMed )
Supplement: mmc2.pdf
Understanding V(D)J recombination initiator RAG1 gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2015
Analysis of mutations and recombination activity in RAG-deficient patients.
Asai E et al.
Clinical Immunology (orlando, Fla.), 2011
Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report.
Al Balwi M et al.
Cases Journal, 2009
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
Villa A et al.
Blood, 2001
The genetic and biochemical basis of Omenn syndrome.
Santagata S et al.
Immunological Reviews, 2000
Omenn syndrome: a disorder of Rag1 and Rag2 genes.
Villa A et al.
Journal of Clinical Immunology, 1999
Partial V(D)J recombination activity leads to Omenn syndrome.
Villa A et al.
Cell, 1998
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