KEGG   VARIANT: 3981v1
Entry
3981v1                      Variant                                
Name
LIG4 mutation
Type
Loss of function
Gene
LIG4  DNA ligase 4 [KO:K10777]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601837
Network
nt06506  Double-strand break repair
Disease
H02015  LIG4 syndrome
Reference
  Authors
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
  Title
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome.
  Journal
Proc Natl Acad Sci U S A 107:3024-9 (2010)
DOI:10.1073/pnas.0914865107
LinkDB

DBGET integrated database retrieval system