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First report of HGD mutations in a Chinese with alkaptonuria

Yongjia Yang, Jihong Guo, Weijian Chen, Rui Zhao, Jinsong Tang, Xiaohua Meng, Zhao Liu, Ming Tu, Xinyu He, Lingqian Wu, Yimin Zhu

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Key concepts: Genetics, Biology, Missense mutation, Exon, Mutation, Mendelian inheritance, Alkaptonuria, RNA splicing

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