Medicine
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22 march 2019 00:02:35 |
| 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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Tweet Cystic fibrosis (CF; OMIM #219700) is a common autosomal recessive disease caused by pathogenic variants (henceforward mutations) in the cystic fibrosis transmembrane conductance regulator gene (CFTR). The spectr... |
| 83 viewsCategory: Genetics, Medicine |
 An immunocompetent patient with a nonsense mutation in NHEJ1 gene (BMC Medical Genetics)Meta-analysis of associations of vascular endothelial growth factor protein levels and -634G/C polymorphism with systemic lupus erythematosus susceptibility (BMC Medical Genetics) 
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