Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia

مواد مشابهة

• Re: Comments on “Pure or Complex Hereditary Spastic Paraplegia Type 4?”: The Authors Respond
  بواسطة: Yang, Jiwon, وآخرون
  منشور في: (2019)
• Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration
  بواسطة: Yang, Ji Won, وآخرون
  منشور في: (2013)
• A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene
  بواسطة: Morikawa, Takuya, وآخرون
  منشور في: (2021)
• Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia
  بواسطة: Park, Hyung Jun, وآخرون
  منشور في: (2018)
• A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia
  بواسطة: Robbins, Nathaniel M., وآخرون
  منشور في: (2020)