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Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3
BACKGROUND: Transcriptome sequencing can improve genetic diagnosis of Mendelian diseases but requires access to tissue expressing disease-relevant transcripts. We explored genetic testing of hypertrophic cardiomyopathy using transcriptome sequencing of patient-specific human induced pluripotent stem...
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| 發表在: | Circ Genom Precis Med |
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| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Lippincott Williams & Wilkins
2021
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8284365/ https://ncbi.nlm.nih.gov/pubmed/33657327 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGEN.120.003202 |
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