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

Antzeko izenburuak

• PANK2 Mutation Screening Recommended to Confirm Diagnosis of Pantothenate Kinase–Associated Neurodegeneration
  nork: Gregory, A., et al.
  Argitaratua: (2006)
• Novel Compound Heterozygous Mutations in the Pantothenate Kinase 2 Gene in a Korean Patient with Atypical Pantothenate Kinase Associated Neurodegeneration
  nork: Kim, Sung-Hyouk, et al.
  Argitaratua: (2009)
• PANK activators for the treatment of pantothenate kinase-associated neurodegeneration
  nork: Jessica Regan, Ph.D., et al.
  Argitaratua: (2025-07-01)
• 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
  nork: Shi, Xulai, et al.
  Argitaratua: (2018)
• Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia
  nork: Kuo, Yien-Ming, et al.
  Argitaratua: (2004)