Apert's syndrome: Study by whole exome sequencing

In the present study we attempted a parent–child trio, whole exome sequencing (WES) approach to study Apert's syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of previously reported P253R mutation in FGFR...

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Detalles Bibliográficos
Autores principales: Munshi, Anjana, Khetarpal, Preeti, Das, Satrupa, Rao, Venkateshwar, Valecha, Monica, Bansal, Manita, Kumar, Roshan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6147108/
https://www.ncbi.nlm.nih.gov/pubmed/30258940
http://dx.doi.org/10.1016/j.gendis.2017.07.008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6147108/
https://www.ncbi.nlm.nih.gov/pubmed/30258940
http://dx.doi.org/10.1016/j.gendis.2017.07.008

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