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Next-generation sequencing identifies a novel heterozygous I229T mutation on LMNA associated with familial cardiac conduction disease
LMNA gene encodes Lamin A and C (Lamin A/C), which are intermediate filament protein implicating in DNA replication and transcription. Mutations in LMNA are validated to cause cardiac conduction disease (CCD) and cardiomyopathy. In a Chinese family, we identified 5 members harboring the identical he...
Tallennettuna:
| Julkaisussa: | Medicine (Baltimore) |
|---|---|
| Päätekijät: | , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Lippincott Williams & Wilkins
2020
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7447464/ https://ncbi.nlm.nih.gov/pubmed/32846814 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000021797 |
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