Pathogenic Intronic Splice-Affecting Variants in <i>MYBPC3</i> in Three Patients with Hypertrophic Cardiomyopathy

Pathogenic Intronic Splice-Affecting Variants in <i>MYBPC3</i> in Three Patients with Hypertrophic Cardiomyopathy

Genetic variants in <i>MYBPC3</i> are one of the most common causes of hypertrophic cardiomyopathy (HCM). While variants in <i>MYBPC3</i> affecting canonical splice site dinucleotides are a well-characterised cause of HCM, only recently has work begun to investigate the patho...

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Hlavní autoři: Katherine A. Wood, Jamie M. Ellingford, James Eden, Huw B. Thomas, Raymond T. O’Keefe, Claire Hopton, William G. Newman
Médium: Článek
Jazyk:English
Vydáno: MDPI AG 2021-06-01
Edice:Cardiogenetics
Témata:
hypertrophic cardiomyopathy
<i>MYBPC3</i>
splice variants
minigene assays
On-line přístup:https://www.mdpi.com/2035-8148/11/2/9

Internet

https://www.mdpi.com/2035-8148/11/2/9

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