Πλοήγηση ανά Θέμα "Frameshift Mutation"

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    • Article  

      Cystic fibrosis patients from the black sea region: The 1677delTA mutation 

      Angelicheva, D.; Boteva, Kalina; Jordanova, A.; Savov, A.; Kufardjieva, A.; Tolun, A.; Telatar, M.; Akarsubaşi, A.; Köprübaşi, F.; Aydoǧdu, S.; Demirkol, M.; Kurdoǧlu, G.; Constantinou-Deltas, Constantinos D.; Georgiou, Christina; Dean, M.; Ivaschenko, T.; Baranov, V.; Kalaydjieva, L. (1994)
      A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among CF chromosomes worldwide, was found to be a relatively common cause of cystic fibrosis in countries located in the region of the Black Sea. ...
    • Article  

      Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease 

      Magistroni, R.; He, N.; Wang, K.; Andrew, R.; Johnson, A.; Gabow, P.; Dicks, E.; Parfrey, P.; Torra, R.; San-Millan, J. L.; Coto, E.; Van Dijk, M.; Breuning, M.; Peters, D.; Bogdanova, N.; Ligabue, G.; Albertazzi, A.; Hateboer, N.; Demetriou, Kyproula; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D.; St. George-Hyslop, P.; Ravine, D.; Pei, Y. (2003)
      Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder that affects approximately 1 in 1000 live births. Mutations of two genes, PKD1 and PKD2, account for the disease in approximately 80 to ...