Whole exome sequencing reveals a mutation in an osteogenesis imperfecta patient

详细信息    查看全文

• 作者：Mehmet Ali Ergun^a ; ^{maliergun@gmail.com} ; Gamze Bilgili^b ; Uğur Hamurcu^c ; Atila Ertan^d
• 关键词：Whole exome sequencing ; Osteogenesis imperfecta ; Dentinogenesis imperfecta
• 刊名：Meta Gene
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：11
• 期：Complete
• 页码：137-140
• 全文大小：297 K
• 卷排序：11

文摘

Osteogenesis imperfecta is an autosomal dominant disorder. Whole exome sequencing revealed a missense mutation in an Osteogenesis imperfecta patient. Sanger sequencing has to be performed in order to confirm the WES results.