| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6063495 | Journal of Allergy and Clinical Immunology | 2015 | 11 Pages |
Abstract
Our findings reveal a novel separation of impact phenotype: there is a pronounced DSB repair defect and marked clinical neurological manifestation but no clinical immunodeficiency.
Keywords
DSBXRCC4-like factorXLFXRCC4DNA-PKLIG4RAG3-MASCIDNMDNHEJCIDCSRGST3-methyladenineionizing radiationDNA double-strand break repairCockayne syndromeDNA double-strand breaknonsense-mediated mRNA decaymicrocephalySCID, Severe combined immunodeficiencywild-typeclass-switch recombinationDNA-dependent protein kinaseNonhomologous end-joiningRecombination-Activating GeneImmunodeficiencyCombined immunodeficiencyglutathione S-transferase
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Authors
Chaowan PhD, Yuka PhD, Lisa PhD, Andrea PhD, Mayuko BS, Heather PhD, Nan PhD, Kaname PhD, Tao-Sheng MD, PhD, Yuji MD, PhD, Norisato MD, PhD, Qiang MD, PhD, Andrew R. MD, Alan R. PhD, Penny A. PhD, Tomoo PhD,