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Two rare missense mutations in the fibrillin-1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome
The present report aimed to evaluate the results of screen mutations of the fibrillin (FBN) 1 gene and analyze the symptoms in one Chinese patient clinically diagnosed with Marfan syndrome (MFS). Clinical data were collected and FBN1 gene sequencing was performed. Genomic DNA was extracted from the...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6059719/ https://www.ncbi.nlm.nih.gov/pubmed/29845260 http://dx.doi.org/10.3892/mmr.2018.9041 |