Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb–Girdle Muscular Dystrophy Patients

por Macias, Anna, Fichna, Jakub Piotr, Topolewska, Malgorzata, Rȩdowicz, Maria J., Kaminska, Anna M., Kostera-Pruszczyk, Anna
Publicado 2021

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

por Fichna, Jakub Piotr, Macias, Anna, Piechota, Marcin, Korostyński, Michał, Potulska-Chromik, Anna, Redowicz, Maria Jolanta, Zekanowski, Cezary
Publicado 2018

ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure

por Jarmula, Adam, Łusakowska, Anna, Fichna, Jakub P., Topolewska, Malgorzata, Macias, Anna, Johnson, Katherine, Töpf, Ana, Straub, Volker, Rosiak, Edyta, Szczepaniak, Krzysztof, Dunin-Horkawicz, Stanisław, Maruszak, Aleksandra, Kaminska, Anna M., Redowicz, Maria Jolanta
Publicado 2019