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Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
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scholarly article
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title
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
(English)
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main subject
microcephaly
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author
Christopher A. Walsh
series ordinal
18
object named as
Christopher A Walsh
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author name string
Jun Shen
series ordinal
1
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Edward C Gilmore
series ordinal
2
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Christine A Marshall
series ordinal
3
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Mary Haddadin
series ordinal
4
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John J Reynolds
series ordinal
5
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Wafaa Eyaid
series ordinal
6
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Adria Bodell
series ordinal
7
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Brenda Barry
series ordinal
8
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Danielle Gleason
series ordinal
9
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Kathryn Allen
series ordinal
10
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Vijay S Ganesh
series ordinal
11
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Bernard S Chang
series ordinal
12
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Arthur Grix
series ordinal
13
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R Sean Hill
series ordinal
14
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Meral Topcu
series ordinal
15
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Keith W Caldecott
series ordinal
16
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A James Barkovich
series ordinal
17
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language of work or name
English
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publication date
March 2010
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published in
Nature Genetics
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volume
42
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issue
3
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page(s)
245-9
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cites work
Specific recognition of a multiply phosphorylated motif in the DNA repair scaffold XRCC1 by the FHA domain of human PNK
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Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly
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Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage
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XRCC1 stimulates human polynucleotide kinase activity at damaged DNA termini and accelerates DNA single-strand break repair
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Identifiers
DOI
10.1038/NG.526
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Dimensions Publication ID
1035429737
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PMC publication ID
2835984
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PubMed publication ID
20118933
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ResearchGate publication ID
41191989
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