Novel dominant distal titinopathy phenotype associated with copy number variation
Abstract The aim of this study was to analyze patients from two distinct families with a novel distal titinopathy phenotype associated with exactly the same CNV in the TTN gene. We used an integrated strategy combining deep phenotyping and complete molecular analyses in patients. The CNV is the most...
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| Auteurs principaux: | , , , , , , , , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Wiley
2021
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/82ea21e674cb43eba36e02589a86a40a |
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