Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8313329 | Clinica Chimica Acta | 2013 | 4 Pages |
Abstract
This is the first report of missense mutation identified in the IgIII domain of the FGFR3 gene using NGS. Our results extended the mutational spectrum of FGFR3 and proved that applications of NGS and bioinformatics are effective methods for skeletal dysplasia diagnosis in clinical practices.
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Authors
Hui Wang, Yan Sun, Weiqing Wu, Xiaoming Wei, Zhangzhang Lan, Jiansheng Xie,