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ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.
Jarmula, Adam; Lusakowska, Anna; Fichna, Jakub P; Topolewska, Malgorzata; Macias, Anna; Johnson, Katherine; Töpf, Ana; Straub, Volker; Rosiak, Edyta; Szczepaniak, Krzysztof; Dunin-Horkawicz, Stanislaw; Maruszak, Aleksandra; Kaminska, Anna M; Redowicz, Maria Jolanta.
Afiliación
  • Jarmula A; Laboratory of Bioinformatics, Nencki Institute of Experimental Biology, Polish Academy of Academy of Sciences, 3 Pasteur St., 02-093, Warsaw, Poland.
  • Lusakowska A; Department of Neurology, Medical University of Warsaw, 1a Banacha St., 02-097, Warsaw, Poland.
  • Fichna JP; Department of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Polish Academy of Sciences, 5 Pawinskiego St., 02-106, Warsaw, Poland.
  • Topolewska M; Laboratory of Molecular Basis of Cell Motility, Nencki Institute of Experimental Biology, Polish Academy of Sciences, 3 Pasteur St., 02-093, Warsaw, Poland.
  • Macias A; Department of Neurology, Medical University of Warsaw, 1a Banacha St., 02-097, Warsaw, Poland.
  • Johnson K; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom.
  • Töpf A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom.
  • Straub V; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom.
  • Rosiak E; 2nd Department of Radiology, Medical University of Warsaw, 1a Banacha St., 02-097, Warsaw, Poland.
  • Szczepaniak K; Laboratory of Structural Bioinformatics, Centre of New Technologies, University of Warsaw, 2c Banacha St., 02-097, Warsaw, Poland.
  • Dunin-Horkawicz S; Laboratory of Structural Bioinformatics, Centre of New Technologies, University of Warsaw, 2c Banacha St., 02-097, Warsaw, Poland.
  • Maruszak A; Department of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Polish Academy of Sciences, 5 Pawinskiego St., 02-106, Warsaw, Poland.
  • Kaminska AM; Department of Neurology, Medical University of Warsaw, 1a Banacha St., 02-097, Warsaw, Poland.
  • Redowicz MJ; Laboratory of Molecular Basis of Cell Motility, Nencki Institute of Experimental Biology, Polish Academy of Sciences, 3 Pasteur St., 02-093, Warsaw, Poland. j.redowicz@nencki.gov.pl.
Sci Rep ; 9(1): 11533, 2019 08 08.
Article en En | MEDLINE | ID: mdl-31395899
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Músculo Esquelético / Predisposición Genética a la Enfermedad / Distrofia Muscular de Cinturas / Anoctaminas Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Sci Rep Año: 2019 Tipo del documento: Article País de afiliación: Polonia
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Músculo Esquelético / Predisposición Genética a la Enfermedad / Distrofia Muscular de Cinturas / Anoctaminas Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Sci Rep Año: 2019 Tipo del documento: Article País de afiliación: Polonia