A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency-Reference-Cited by-同舟云学术

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency

Published:2014-04 Issue:4 Volume:133 Page:1099-1108.e12
ISSN:0091-6749
Container-title:Journal of Allergy and Clinical Immunology
language:en
Short-container-title:Journal of Allergy and Clinical Immunology

Author:

Lee Yu Nee,Frugoni Francesco,Dobbs Kerry,Walter Jolan E.,Giliani Silvia,Gennery Andrew R.,Al-Herz Waleed,Haddad Elie,LeDeist Francoise,Bleesing Jack H.,Henderson Lauren A.,Pai Sung-Yun,Nelson Robert P.,El-Ghoneimy Dalia H.,El-Feky Reem A.,Reda Shereen M.,Hossny Elham,Soler-Palacin Pere,Fuleihan Ramsay L.,Patel Niraj C.,Massaad Michel J.,Geha Raif S.,Puck Jennifer M.,Palma Paolo,Cancrini Caterina,Chen Karin,Vihinen Mauno,Alt Frederick W.,Notarangelo Luigi D.

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference43 articles.

1. V(D)J recombination: mechanisms of initiation;Schatz;Annu Rev Genet,2011

2. Mechanisms of programmed DNA lesions and genomic instability in the immune system;Alt;Cell,2013

3. RAG mutations in human B cell-negative SCID;Schwarz;Science,1996

4. Partial V(D)J recombination activity leads to Omenn syndrome;Villa;Cell,1998

5. Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B- severe combined immune deficiency or Omenn syndrome;Corneo;Blood,2001

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