• Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Gly469Glu (c.1406G>A); ClinVar=VCV000007674; Zygosity=Heterozygous (PubMed=11779494).
  
• Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Arg814Ter (c.2440C>T); ClinVar=VCV000007673; Zygosity=Heterozygous (PubMed=11779494).
  

PubMed=11779494; DOI=10.1016/S1097-2765(01)00408-7
Mark O'Driscoll, Karen M. Cerosaletti, Pierre-Marie Girard, Yan Dai, Markus Stumm, Boris Kysela, Betsy Hirsch, Andrew R. Gennery, Susan E. Palmer, Jorg Seidel, Richard A. Gatti ...Show all 16 authors... , Raymonda Varon, Marjorie Ann Oettinger, Heidemarie Neitzel, Penelope Ann Jeggo, Patrick Concannon; Show fewer authors
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
Mol. Cell 8:1175-1185(2001)

PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013
Paul F. Wilson, Peter B. Nham, Salustra S. Urbin, John M. Hinz, Irene M. Jones, Lawrence H. Thompson;
Inter-individual variation in DNA double-strand break repair in human fibroblasts before and after exposure to low doses of ionizing radiation.
Mutat. Res. 683:91-97(2010)