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Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.
Rasmussen, Torsten B; Nissen, Peter H; Palmfeldt, Johan; Gehmlich, Katja; Dalager, Søren; Jensen, Uffe B; Kim, Won Y; Heickendorff, Lene; Mølgaard, Henning; Jensen, Henrik K; Baandrup, Ulrik T; Bross, Peter; Mogensen, Jens.
Afiliação
  • Rasmussen TB; From the Department of Cardiology (T.B.R., W.Y.K., H.M., H.K.J., J.M.), Research Unit for Molecular Medicine (T.B.R., J.P., P.B.), Department of Clinical Biochemistry (P.H.N., L.H.), Institute of Pathology (S.D.), Department of Clinical Genetics (U.B.J.), and MR Centre (W.Y.K.), Aarhus University Ho
  • Nissen PH; From the Department of Cardiology (T.B.R., W.Y.K., H.M., H.K.J., J.M.), Research Unit for Molecular Medicine (T.B.R., J.P., P.B.), Department of Clinical Biochemistry (P.H.N., L.H.), Institute of Pathology (S.D.), Department of Clinical Genetics (U.B.J.), and MR Centre (W.Y.K.), Aarhus University Ho
  • Palmfeldt J; From the Department of Cardiology (T.B.R., W.Y.K., H.M., H.K.J., J.M.), Research Unit for Molecular Medicine (T.B.R., J.P., P.B.), Department of Clinical Biochemistry (P.H.N., L.H.), Institute of Pathology (S.D.), Department of Clinical Genetics (U.B.J.), and MR Centre (W.Y.K.), Aarhus University Ho
  • Gehmlich K; From the Department of Cardiology (T.B.R., W.Y.K., H.M., H.K.J., J.M.), Research Unit for Molecular Medicine (T.B.R., J.P., P.B.), Department of Clinical Biochemistry (P.H.N., L.H.), Institute of Pathology (S.D.), Department of Clinical Genetics (U.B.J.), and MR Centre (W.Y.K.), Aarhus University Ho
  • Dalager S; From the Department of Cardiology (T.B.R., W.Y.K., H.M., H.K.J., J.M.), Research Unit for Molecular Medicine (T.B.R., J.P., P.B.), Department of Clinical Biochemistry (P.H.N., L.H.), Institute of Pathology (S.D.), Department of Clinical Genetics (U.B.J.), and MR Centre (W.Y.K.), Aarhus University Ho
  • Jensen UB; From the Department of Cardiology (T.B.R., W.Y.K., H.M., H.K.J., J.M.), Research Unit for Molecular Medicine (T.B.R., J.P., P.B.), Department of Clinical Biochemistry (P.H.N., L.H.), Institute of Pathology (S.D.), Department of Clinical Genetics (U.B.J.), and MR Centre (W.Y.K.), Aarhus University Ho
  • Kim WY; From the Department of Cardiology (T.B.R., W.Y.K., H.M., H.K.J., J.M.), Research Unit for Molecular Medicine (T.B.R., J.P., P.B.), Department of Clinical Biochemistry (P.H.N., L.H.), Institute of Pathology (S.D.), Department of Clinical Genetics (U.B.J.), and MR Centre (W.Y.K.), Aarhus University Ho
  • Heickendorff L; From the Department of Cardiology (T.B.R., W.Y.K., H.M., H.K.J., J.M.), Research Unit for Molecular Medicine (T.B.R., J.P., P.B.), Department of Clinical Biochemistry (P.H.N., L.H.), Institute of Pathology (S.D.), Department of Clinical Genetics (U.B.J.), and MR Centre (W.Y.K.), Aarhus University Ho
  • Mølgaard H; From the Department of Cardiology (T.B.R., W.Y.K., H.M., H.K.J., J.M.), Research Unit for Molecular Medicine (T.B.R., J.P., P.B.), Department of Clinical Biochemistry (P.H.N., L.H.), Institute of Pathology (S.D.), Department of Clinical Genetics (U.B.J.), and MR Centre (W.Y.K.), Aarhus University Ho
  • Jensen HK; From the Department of Cardiology (T.B.R., W.Y.K., H.M., H.K.J., J.M.), Research Unit for Molecular Medicine (T.B.R., J.P., P.B.), Department of Clinical Biochemistry (P.H.N., L.H.), Institute of Pathology (S.D.), Department of Clinical Genetics (U.B.J.), and MR Centre (W.Y.K.), Aarhus University Ho
  • Baandrup UT; From the Department of Cardiology (T.B.R., W.Y.K., H.M., H.K.J., J.M.), Research Unit for Molecular Medicine (T.B.R., J.P., P.B.), Department of Clinical Biochemistry (P.H.N., L.H.), Institute of Pathology (S.D.), Department of Clinical Genetics (U.B.J.), and MR Centre (W.Y.K.), Aarhus University Ho
  • Bross P; From the Department of Cardiology (T.B.R., W.Y.K., H.M., H.K.J., J.M.), Research Unit for Molecular Medicine (T.B.R., J.P., P.B.), Department of Clinical Biochemistry (P.H.N., L.H.), Institute of Pathology (S.D.), Department of Clinical Genetics (U.B.J.), and MR Centre (W.Y.K.), Aarhus University Ho
  • Mogensen J; From the Department of Cardiology (T.B.R., W.Y.K., H.M., H.K.J., J.M.), Research Unit for Molecular Medicine (T.B.R., J.P., P.B.), Department of Clinical Biochemistry (P.H.N., L.H.), Institute of Pathology (S.D.), Department of Clinical Genetics (U.B.J.), and MR Centre (W.Y.K.), Aarhus University Ho
Circ Cardiovasc Genet ; 7(3): 230-40, 2014 Jun.
Article em En | MEDLINE | ID: mdl-24704780
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção de Sequência / Displasia Arritmogênica Ventricular Direita / Epiderme / Placofilinas / Haploinsuficiência / Miocárdio Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção de Sequência / Displasia Arritmogênica Ventricular Direita / Epiderme / Placofilinas / Haploinsuficiência / Miocárdio Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2014 Tipo de documento: Article