Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A)

참고문헌 (6)

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3. Jerath NU, "Progressive lower extremity weakness and axonal sensorimotor polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)", Case Rep Genet, 2015, pp.496053~ (2015)
4. Liu YT, "Extended phenotypic spectrum of KIF5A mutations : from spastic paraplegia to axonal neuropathy", Neurology, 83, pp.612~619 (2014)
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6. 남다은, "Wide phenotypic spectrum in axonal Charcot–Marie–Tooth neuropathy type 2 patients with KIF5A mutations", Genes & Genomics, 40(1), pp.77~84 (2018), 한국유전학회[DOI]

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