- Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA) in South Korea
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Choi JY, Yun HH, Lee CG
- KMID: 2327698
- J Genet Med.
- 2016 Jun;13(1):20-25.
- doi: 10.5734/JGM.2016.13.1.20
PURPOSE: Xeroderma pigmentosum (XP) is rare autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. We reported the first... -
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