Listar Biología por autor "Caldecott, Keith W."
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Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair
Kasalova, Ilona; Hailstone, Richard; Bublitz, Janin; Bogantes Ledezma, Jovel; Hofmann, Winfried; Leal Esquivel, Alejandro; Hanzlikova, Hana; Caldecott, Keith W. (2020)Hereditary mutations in polynucleotide kinasephosphatase (PNKP) result in a spectrum of neurological pathologies ranging from neurodevelopmental dysfunction in microcephaly with early onset seizures (MCSZ) to ...