Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report

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作者
Changhoon Jeong
Jae Young Lee
Jiyeon Kim
Hyojin Chae
Hae-il Park
Myungshin Kim
Ok-Hwa Kim
Paul Kim
Young Kee Lee
Jongsun Jung
机构
[1] Bucheon St. Mary’s Hospital,Department of Orthopaedic Surgery
[2] The Catholic University of Korea,Catholic Genetic Laboratory Center
[3] Seoul St. Mary’ Hospital,Department of Laboratory Medicine
[4] The Catholic University of Korea,Department of Radiology
[5] The Catholic University of Korea,undefined
[6] Ajou University Hospital,undefined
[7] Syntekabio Inc,undefined
关键词
Multiple epiphyseal dysplasia; COL9A3; Molecular dynamics simulation;
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