Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans

Islam, Azharul ; Chakraborty, Anirban ; Gambardella, Stefano ; Campopiano, Rosa ; Sarker, Altaf H. ; Boldogh, Istvan ; Hazra, Tapas

The Journal of biological chemistry, 2023-05, Vol.299 (5), p.104714-104714, Article 104714 [Periódico revisado por pares]

United States: Elsevier Inc

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