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Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.

Xiaoxu HanShijing WuMin WangHui LiYan HuangRuifang Sui
Published in: Molecular genetics & genomic medicine (2020)
Our study first described the ophthalmic and neurologic characteristics of a small cohort of unrelated mainland Chinese patients with sialidosis type 1. We found that c.544A>G (p. S182G) might be a hotspot variant in Chinese patients. The accumulation of metabolic products in the nerve fiber and ganglion cell layers is a characteristic ocular finding that could be sensitively detected by OCT and FAF imaging.
Keyphrases
  • optic nerve
  • high resolution
  • single cell
  • cell therapy
  • optical coherence tomography
  • genome wide
  • neuropathic pain
  • diabetic retinopathy
  • stem cells
  • gene expression
  • copy number
  • cord blood
  • peripheral nerve