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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...
Kaydedildi:
| Yayımlandı: | Int J Mol Sci |
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| Asıl Yazarlar: | , , , , , , , , , , , , , , , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
MDPI
2021
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| 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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