Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction

Introduction: Cardiomyopathies are diseases of the heart muscle and are important causes of heart failure. Dilated cardiomyopathy (DCM) is a common form of cardiomyopathy that can be acquired, syndromic or non-syndromic. The current study was conducted to explore the genetic defects in a Pakistani f...

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Detalles Bibliográficos
Autores principales: Farooqi, Nadia, Metherell, Louise A., Schrauwen, Isabelle, Acharya, Anushree, Khan, Qayum, Nouel Saied, Liz M., Ali, Yasir, El-Serehy, Hamed A., Jalil, Fazal, Leal, Suzanne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700962/
https://www.ncbi.nlm.nih.gov/pubmed/34946863
http://dx.doi.org/10.3390/genes12121915

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700962/
https://www.ncbi.nlm.nih.gov/pubmed/34946863
http://dx.doi.org/10.3390/genes12121915

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