A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese patient with argininemia: A case report

Podobne zapisy

• Whole exome sequencing identified a new compound heterozygous PRKN mutation in a Chinese family with early-onset Parkinson’s disease
  od: Li, Tianbai, i wsp.
  Wydane: (2020)
• Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family
  od: Huang, Yanxia, i wsp.
  Wydane: (2021)
• A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher-Neuhäuser syndrome
  od: Zheng, Ruizhi, i wsp.
  Wydane: (2018)
• Compound heterozygous mutations in MICU1 cause myopathy with extrapyramidal signs in two Chinese pedigrees
  od: Jieling Li, i wsp.
  Wydane: (2025-09-01)
• 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
  od: Shi, Xulai, i wsp.
  Wydane: (2018)