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      [A novel homozygous mutation in PLA2G6 gene causes infantile neuroaxonal dystrophy in a case].

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          Abstract

          To investigate the clinical symptoms and potential mutations in the PLA2G6 gene for a child with infantile neuroaxonal dystrophy.

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          Author and article information

          Journal
          Zhonghua Yi Xue Yi Chuan Xue Za Zhi
          Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
          Ovid Technologies (Wolters Kluwer Health)
          1003-9406
          1003-9406
          Feb 2016
          : 33
          : 1
          Affiliations
          [1 ] Department of Endocrinology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310003, China. dgpxlx@163.com.
          Article
          940632016
          10.3760/cma.j.issn.1003-9406.2016.01.016
          26829737
          fb9f3651-4c91-44a9-9b33-1f99ff2d7b91
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