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A novel FBN1 mutation causes autosomal dominant Marfan syndrome
Marfan syndrome (MFS) is an inherited and systemic disorder. It has been reported that mutations in the fibrillin-1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. This study was conducted to screen mutations of FBN1 in a Chinese family with autosomal dominant MFS; four individuals...
Autores principales: | Xiao, Ying, Liu, Xiaoqi, Guo, Xiaoxin, Liu, Liping, Jiang, Linxin, Wang, Qi, Gong, Bo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865861/ https://www.ncbi.nlm.nih.gov/pubmed/28944857 http://dx.doi.org/10.3892/mmr.2017.7544 |
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