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Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short-trunk dwarfism, skeletal and vertebral deformities. Exome sequencing and Sanger sequencing were performed in a Chinese Han family with typical SEDC, and a novel mutation, c...
Autores principales: | Huang, Xiangjun, Deng, Xiong, Xu, Hongbo, Wu, Song, Yuan, Lamei, Yang, Zhijian, Yang, Yan, Deng, Hao |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4452087/ https://www.ncbi.nlm.nih.gov/pubmed/26030151 http://dx.doi.org/10.1371/journal.pone.0127529 |
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