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Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States
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Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States

Kurzawski, 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, J

Journal of medical genetics, 2002-10, Vol.39 (10), p.e65-65 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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2
OMISSION OF EXON 12 IN CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE TRANSCRIPTS
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OMISSION OF EXON 12 IN CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE TRANSCRIPTS

SLOMSKI, R ; SCHLOESSER, M ; BERG, LP ; WAGNER, M ; KAKKAR, VV ; COOPER, DN ; REISS, J

Human genetics, 1992-08, Vol.89 (6), p.615-619 [Periódico revisado por pares]

NEW YORK: Springer Nature

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3
De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: Demonstration of exon skipping by ectopic transcript analysis
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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 analysis

Berg, 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 Inc

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