Japanese

Genomic Study of Locomotive Diseases. Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system. Imagawa Eri 1 , Miyake Noriko 2 , Matsumoto Naomichi 3 1Depertment of Human Genetics, Yokohama City University Graduate School of Medicine, Japan. 2Depertment of Human Genetics, Yokohama City University Graduate School of Medicine, Japan. 3Depertment of Human Genetics, Yokohama City University Graduate School of Medicine, Japan. pp.515-523
Published Date 2016/3/28
DOI https://doi.org/10.20837/4201604009
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 Next-generation sequencing technologies enable comprehensive genetic analyses in monogenic and oligonenic diseases. Especially whole-exome sequencing(WES)targeting exonic regions of protein coding genes is mainly used for Mendelian diseases. Here we describe a case of Hand-foot-genital syndrome arising from a HOXA13 mutation[c.1102A>T(p.Ile368Phe)]as one of successful examples in our successful WES analyses.



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電子版ISSN 印刷版ISSN 0917-5857 医薬ジャーナル社

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