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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Circ Genom Precis Med
Egile Nagusiak: Holliday, Mira, Singer, Emma S., Ross, Samantha B., Lim, Seakcheng, Lal, Sean, Ingles, Jodie, Semsarian, Christopher, Bagnall, Richard D.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Lippincott Williams & Wilkins 2021
Gaiak:
Original Articles
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak