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A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations
BACKGROUND: In humans mutations in the PLN gene, encoding phospholamban - a regulator of sarcoplasmic reticulum calcium ATPase (SERCA), cause cardiomyopathy with prevalence depending on the population. Our purpose was to identify PLN mutations in Polish cardiomyopathy patients. METHODS: We studied 1...
Autores principales: | Truszkowska, Grażyna T, Bilińska, Zofia T, Kosińska, Joanna, Śleszycka, Justyna, Rydzanicz, Małgorzata, Sobieszczańska-Małek, Małgorzata, Franaszczyk, Maria, Bilińska, Maria, Stawiński, Piotr, Michalak, Ewa, Małek, Łukasz A, Chmielewski, Przemysław, Foss-Nieradko, Bogna, Machnicki, Marcin M, Stokłosa, Tomasz, Ponińska, Joanna, Szumowski, Łukasz, Grzybowski, Jacek, Piwoński, Jerzy, Drygas, Wojciech, Zieliński, Tomasz, Płoski, Rafał |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421997/ https://www.ncbi.nlm.nih.gov/pubmed/25928149 http://dx.doi.org/10.1186/s12881-015-0167-0 |
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