Medicine
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22 march 2019 00:02:35 |
| An immunocompetent patient with a nonsense mutation in NHEJ1 gene (BMC Medical Genetics) |
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Tweet DNA double-strand breaks (DSBs) are among the most deleterious types of DNA damage. DSBs are repaired by homologous recombination or non-homologous end-joining (NHEJ). NHEJ, which is central to the process of ... |
| 71 viewsCategory: Genetics, Medicine |
 A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract (BMC Medical Genetics)Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus (BMC Medical Genetics) 
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