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Exome sequencing identified new mutations in a Marfan syndrome family
Marfan syndrome is a common autosomal dominant hereditary connective tissue disorder. There is no cure for Marfan syndrome currently. Next-generation sequencing (NGS) technology is efficient to identify genetic lesions at the exome level. Here we carried out exome sequencing of two Marfan syndrome p...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3918099/ https://ncbi.nlm.nih.gov/pubmed/24484584 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1746-1596-9-25 |
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