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Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Int J Mol Sci
Päätekijät: Monasky, Michelle M., Micaglio, Emanuele, Ciconte, Giuseppe, Rivolta, Ilaria, Borrelli, Valeria, Ghiroldi, Andrea, D’Imperio, Sara, Binda, Anna, Melgari, Dario, Benedetti, Sara, Mitrovic, Predrag, Anastasia, Luigi, Mecarocci, Valerio, Ćalović, Žarko, Casari, Giorgio, Pappone, Carlo
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2021
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC8125150/
https://ncbi.nlm.nih.gov/pubmed/33946750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22094700
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