Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India

Indian J Med Res. 2012 Dec;136(6):1048-50.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Base Sequence
  • Chromatography, Thin Layer
  • Female
  • Humans
  • India
  • Infant
  • Molecular Sequence Data
  • Mucolipidoses / enzymology*
  • Mucolipidoses / pathology*
  • Mutation / genetics
  • Neuraminidase / deficiency
  • Neuraminidase / genetics*
  • Oligosaccharides / urine
  • Sequence Analysis, DNA

Substances

  • Oligosaccharides
  • NEU1 protein, human
  • Neuraminidase