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Paper Details

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Am J Hum Genet
56
2015
DNA double, LIG4, LIG4 mutations, MPD, NHEJ proteins, SCID, XRCC4, XRCC4 cells, XRCC4 protein, bone marrow failure, global, growth deficits, growth failure, immunodeficiency, immunoglobulin, ligase IV, microcephalic primordial dwarfism, pancytopenia, primordial dwarfism, severe combined immunodeficiency
Author NameAffiliation
Charu DeshpandeGuy's Hospital, Guy's and St Thomas' NHS Foundation Trust
Tom L BlundellUniversity of Cambridge
Andrew P JacksonMRC Institute of Genetics and Molecular Medicine, University of Edinburgh
Andrew P JacksonMRC Institute of Genetics and Molecular Medicine, University of Edinburgh
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