Novel Compound Heterozygous Mutations in the PANK2 Gene in a Chinese Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration

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• PANK2 Mutation Screening Recommended to Confirm Diagnosis of Pantothenate Kinase–Associated Neurodegeneration
  door: Gregory, A., et al.
  Gepubliceerd in: (2006)
• Novel Compound Heterozygous Mutations in the Pantothenate Kinase 2 Gene in a Korean Patient with Atypical Pantothenate Kinase Associated Neurodegeneration
  door: Kim, Sung-Hyouk, et al.
  Gepubliceerd in: (2009)
• Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report
  door: Shi, Xulai, et al.
  Gepubliceerd in: (2018)
• Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia
  door: Kuo, Yien-Ming, et al.
  Gepubliceerd in: (2004)
• Novel PANK2 mutation in the first Greek compound heterozygote patient with pantothenate-kinase-associated neurodegeneration
  door: Paraskevas, George P, et al.
  Gepubliceerd in: (2017)