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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Vydáno v:Circ Genom Precis Med
Hlavní autoři: Holliday, Mira, Singer, Emma S., Ross, Samantha B., Lim, Seakcheng, Lal, Sean, Ingles, Jodie, Semsarian, Christopher, Bagnall, Richard D.
Médium: Artigo
Jazyk:Inglês
Vydáno: Lippincott Williams & Wilkins 2021
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Original Articles
On-line přístup: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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