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...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4421997/
https://ncbi.nlm.nih.gov/pubmed/25928149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0167-0
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