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Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset

About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently u...

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Detaylı Bibliyografya
Yayımlandı:Int J Mol Sci
Asıl Yazarlar: Brodehl, Andreas, Meshkov, Alexey, Myasnikov, Roman, Kiseleva, Anna, Kulikova, Olga, Klauke, Bärbel, Sotnikova, Evgeniia, Stanasiuk, Caroline, Divashuk, Mikhail, Pohl, Greta Marie, Kudryavtseva, Maria, Klingel, Karin, Gerull, Brenda, Zharikova, Anastasia, Gummert, Jan, Koretskiy, Sergey, Schubert, Stephan, Mershina, Elena, Gärtner, Anna, Pilus, Polina, Laser, Kai Thorsten, Sinitsyn, Valentin, Boytsov, Sergey, Drapkina, Oxana, Milting, Hendrik
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI 2021
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8038858/
https://ncbi.nlm.nih.gov/pubmed/33917638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22073786
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