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Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome
Marfan syndrome (MFS) is an autosomal dominant heterogeneous disorder of connective tissue characterized by the early development of thoracic aneurysms/dissections, together with defects of the ocular and skeletal systems. Loss-of-function mutations in fibrillin-1 (FBN1) encoded by the gene, FBN1 (M...
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| Publicado no: | Mol Med Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
D.A. Spandidos
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4918605/ https://ncbi.nlm.nih.gov/pubmed/27175573 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2016.5229 |
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