A carregar...

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair

Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide kinase/phosphatase (PNKP), a DNA strand break repair protein with DNA 5′-kinase and DNA 3′-phosphatase activity. To investigate the molecular basis of this...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Reynolds, John J., Walker, Alexandra K., Gilmore, Edward C., Walsh, Christopher A., Caldecott, Keith W.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3413127/
https://ncbi.nlm.nih.gov/pubmed/22508754
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gks318
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!