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Material Type: Artigo
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Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic StatesKurzawski, G ; Suchy, J ; Kładny, J ; Safranow, K ; Jakubowska, A ; Elsakov, P ; Kucinskas, V ; Gardovski, J ; Irmejs, A ; Sibul, H ; Huzarski, T ; Byrski, T ; Dębniak, T ; Cybulski, C ; Gronwald, J ; Oszurek, O ; Clark, J ; Góźdź, S ; Niepsuj, S ; Słomski, R ; Pławski, A ; Łącka-Wojciechowska, A ; Rozmiarek, A ; Fiszer-Maliszewska, Ł ; Bębenek, M ; Sorokin, D ; Stawicka, M ; Godlewski, D ; Richter, P ; Brożek, I ; Wysocka, B ; Jawień, A ; Banaszkiewicz, Z ; Kowalczyk, J ; Czudowska, D ; Goretzki, P E ; Moeslein, G ; Lubiński, JJournal of medical genetics, 2002-10, Vol.39 (10), p.e65-65 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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OMISSION OF EXON 12 IN CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE TRANSCRIPTSSLOMSKI, R ; SCHLOESSER, M ; BERG, LP ; WAGNER, M ; KAKKAR, VV ; COOPER, DN ; REISS, JHuman genetics, 1992-08, Vol.89 (6), p.615-619 [Periódico revisado por pares]NEW YORK: Springer NatureTexto completo disponível |
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Material Type: Artigo
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De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: Demonstration of exon skipping by ectopic transcript analysisBerg, Lutz-Peter ; Grundy, Catherine B. ; Thomas, Frank ; Millar, David S. ; Green, Peter J. ; Slomski, Ryszard ; Reiss, Jochen ; Kakkar, Vijay V. ; Cooper, David N.Genomics (San Diego, Calif.), 1992-08, Vol.13 (4), p.1359-1361 [Periódico revisado por pares]San Diego, CA: Elsevier IncTexto completo disponível |