From genotype to phenotype: a longitudinal study of a patient with hypertrophic cardiomyopathy due to a mutation in the MYBPC3 gene

2008 ◽  
Vol 29 (6-8) ◽  
pp. 239-246 ◽  
Author(s):  
Adam Jacques ◽  
Anita C. Hoskins ◽  
Jonathan C. Kentish ◽  
Steven B. Marston
Keyword(s):  
Longitudinal Study ◽  
Hypertrophic Cardiomyopathy ◽  
Mybpc3 Gene

scholarly journals MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India

2008 ◽  
Vol 24 (2) ◽  
pp. 127-130 ◽  
Author(s):  
Reena R. Tanjore ◽  
Advithi Rangaraju ◽  
P.G. Kerkar ◽  
Narsimhan Calambur ◽  
Pratibha Nallari
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Mybpc3 Gene

Spectrum of MYBPC3 Gene Mutations in Patients with Hypertrophic Cardiomyopathy, Reporting Two Novel Mutations from North-West of Iran

2016 ◽  
Vol 62 (05/2016) ◽  
Author(s):  
Leila Emrahi ◽  
Mehrnoush Tabrizi ◽  
Jalal Gharehsouran ◽  
Seyyed Ardebili ◽  
Mehrdad Estiar
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Gene Mutations ◽  
Novel Mutations ◽  
North West ◽  
Mybpc3 Gene

scholarly journals NGS data validated by Sanger sequencing reveal a puzzling small deletion of MYBPC3 gene associated with hypertrophic cardiomyopathy

2019 ◽  
Vol 24 (1) ◽  
pp. 91-99 ◽  
Author(s):  
MIRUNA MIHAELA MICHEU ◽  
◽  
NICOLETA M. POPA-FOTEA ◽  
NICOLETA OPRESCU ◽  
MARIA DOROBANTU ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Sanger Sequencing ◽  
Small Deletion ◽  
Ngs Data ◽  
Mybpc3 Gene

The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans

2010 ◽  
Vol 145 (2) ◽  
pp. 405-407 ◽  
Author(s):  
Tomás Ripoll Vera ◽  
Lorenzo Monserrat Iglesias ◽  
Manuel Hermida Prieto ◽  
Martin Ortiz ◽  
Isabel Rodriguez Garcia ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Left Ventricular ◽  
Mybpc3 Gene

A Homozygous MYBPC3 Gene Mutation Associated With a Severe Phenotype and a High Risk of Sudden Death in a Family With Hypertrophic Cardiomyopathy

2009 ◽  
Vol 62 (5) ◽  
pp. 572-575
Author(s):  
Martín F. Ortiz ◽  
María Isabel Rodríguez-García ◽  
Manuel Hermida-Prieto ◽  
Xusto Fernández ◽  
Elena Veira ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
High Risk ◽  
Sudden Death ◽  
Gene Mutation ◽  
Severe Phenotype ◽  
Mybpc3 Gene
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