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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Detalles Bibliográficos
Autores principales: Li, Guangxin, Yu, Jian, Wang, Kun, Wang, Bin, Wang, Minghai, Zhang, Shuguang, Qin, Shiyong, Yu, Zhenhai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3918099/
https://www.ncbi.nlm.nih.gov/pubmed/24484584
http://dx.doi.org/10.1186/1746-1596-9-25

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3918099/
https://www.ncbi.nlm.nih.gov/pubmed/24484584
http://dx.doi.org/10.1186/1746-1596-9-25

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