Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family

BACKGROUND: Haploinsufficiency of TAB2 is known to cause congenital heart defects and cardiomyopathy due to its important roles in cardiovascular tissue, both during development and through adult life. We report a sibling pair displaying adult‐onset cardiomyopathy, hypermobility, and mild myopia. Ou...

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Detalles Bibliográficos
Autores principales: Caulfield, Thomas R., Richter, John E., Brown, Emily E., Mohammad, Ahmed N., Judge, Daniel P., Atwal, Paldeep S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081229/
https://www.ncbi.nlm.nih.gov/pubmed/29700987
http://dx.doi.org/10.1002/mgg3.401

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081229/
https://www.ncbi.nlm.nih.gov/pubmed/29700987
http://dx.doi.org/10.1002/mgg3.401

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