Article ID Journal Published Year Pages File Type
8313329 Clinica Chimica Acta 2013 4 Pages PDF
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.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
Authors
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