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Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.
Reynolds, John J; Walker, Alexandra K; Gilmore, Edward C; Walsh, Christopher A; Caldecott, Keith W.
Affiliation
  • Reynolds JJ; Genome Damage and Stability Centre, University of Sussex, Science Park Road, Falmer, Brighton, BN1 9RQ, UK.
Nucleic Acids Res ; 40(14): 6608-19, 2012 Aug.
Article in En | MEDLINE | ID: mdl-22508754
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphotransferases (Alcohol Group Acceptor) / DNA Repair Enzymes / DNA Repair / DNA Breaks, Single-Stranded / Microcephaly / Mutation Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Nucleic Acids Res Year: 2012 Document type: Article Affiliation country: Reino Unido Country of publication: Reino Unido
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphotransferases (Alcohol Group Acceptor) / DNA Repair Enzymes / DNA Repair / DNA Breaks, Single-Stranded / Microcephaly / Mutation Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Nucleic Acids Res Year: 2012 Document type: Article Affiliation country: Reino Unido Country of publication: Reino Unido