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Rosin et al., 2015 - Google Patents

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability

Rosin et al., 2015

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Document ID
9370407612084173736
Author
Rosin N
Elcioglu N
Beleggia F
Isgüven P
Altmüller J
Thiele H
Steindl K
Joset P
Rauch A
Nürnberg P
Wollnik B
Yigit G
Publication year
Publication venue
Human molecular genetics

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Snippet

DNA double-strand breaks (DSBs) are highly toxic lesions, which, if not properly repaired, can give rise to genomic instability. Non-homologous end-joining (NHEJ), a well- orchestrated, multistep process involving numerous proteins essential for cell viability …
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
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    • G01N33/48—Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
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    • G01N33/502—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics for testing non-proliferative effects
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