Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome.
Rucci F, Notarangelo LD, Fazeli A, Patrizi L, Hickernell T, Paganini T, Coakley KM, Detre C, Keszei M, Walter JE, Feldman L, Cheng HL, Poliani PL, Wang JH, Balter BB, Recher M, Andersson EM, Zha S, Giliani S, Terhorst C, Alt FW, Yan CT.
Rucci F, et al. Among authors: zha s.
Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3024-9. doi: 10.1073/pnas.0914865107. Epub 2010 Feb 1.
Proc Natl Acad Sci U S A. 2010.
PMID: 20133615
Free PMC article.