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Jevin M Parmar1,2, Nigel G Laing2,3, Marina L Kennerson4,5

  • 1Rare Disease Genetics and Functional Genomics, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.

概括

诊断遗传性外围神经病变 (IPN) 仍然具有挑战性,许多病例在遗传上未解决. 本综述强调了最近的基因发现,并提出了未来的策略,以加快IPN患者的遗传诊断.

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