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Auflistung Nach Schlagwort "nonsense mutation"

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    • Clinical immunology quiz-Case 6 

      Speletas, M.; Boukas, K.; Louies, G.; Germenis, A. E. (2009)

    • A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease 

      Hadjigeorgiou, G. M.; Papadimitriou, A.; Musumeci, O.; Paterakis, K.; Flabouriari, K.; Shanske, S.; DiMauro, S. (2002)
      We identified a novel stop codon mutation in the myophosphorylase gene in a Greek patient with typical symptoms of McArdle's disease. This is the first genetic study of myophosphorylase deficiency in a Greek family, showing ...

    • Somatic evolution and global expansion of an ancient transmissible cancer lineage 

      Baez-Ortega A., Gori K., Strakova A., Allen J.L., Allum K.M., Bansse-Issa L., Bhutia T.N., Bisson J.L., Briceño C., Domracheva A.C., Corrigan A.M., Cran H.R., Crawford J.T., Davis E., De Castro K.F., De Nardi A.B., De Vos A.P., Keenan L.D., Donelan E.M., Espinoza Huerta A.R., Faramade I.A., Fazil M., Fotopoulou E., Fruean S.N., Gallardo-Arrieta F., Glebova O., Gouletsou P.G., Häfelin Manrique R.F., Henriques J.J.G.P., Horta R.S., Ignatenko N., Kane Y., King C., Koenig D., Krupa A., Kruzeniski S.J., Kwon Y.-M., Lanza-Perea M., Lazyan M., Lopez Quintana A.M., Losfelt T., Marino G., Castañeda S.M., Martínez-López M.F., Meyer M., Migneco E.J., Nakanwagi B., Neal K.B., Neunzig W., Leathlobhair M.N., Nixon S.J., Ortega-Pacheco A., Pedraza-Ordoñez F., Peleteiro M.C., Polak K., Pye R.J., Reece J.F., Gutierrez J.R., Sadia H., Schmeling S.K., Shamanova O., Sherlock A.G., Stammnitz M., Steenland-Smit A.E., Svitich A., Tapia Martínez L.J., Ngoka I.T., Torres C.G., Tudor E.M., Van Der Wel M.G., Viţălaru B.A., Vural S.A., Walkinton O., Wang J., Wehrle-Martinez A.S., Widdowson S.A.E., Stratton M.R., Alexandrov L.B., Martincorena I., Murchison E.P. (2019)
      The canine transmissible venereal tumor (CTVT) is a cancer lineage that arose several millennia ago and survives by “metastasizing” between hosts through cell transfer. The somatic mutations in this cancer record its ...