Associated Papers
Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.
Barbouche MR et al.
Frontiers in Immunology, 2017
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
From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family.
Martinez-Martinez L et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2012
Omenn syndrome with mutation in RAG1 gene.
Jaouad IC et al.
Indian Journal of Pediatrics, 2008
The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.
Noordzij JG et al.
Blood, 2002
The genetic and biochemical basis of Omenn syndrome.
Santagata S et al.
Immunological Reviews, 2000
N-terminal truncated human RAG1 proteins can direct T-cell receptor but not immunoglobulin gene rearrangements.
Noordzij JG et al.
Blood, 2000
Select a paper to view details