DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion

Clin Chim Acta. 2007 Feb;376(1-2):250-2. doi: 10.1016/j.cca.2006.09.004. Epub 2006 Oct 10.
No abstract available

Publication types

  • Letter

MeSH terms

  • Asian People
  • Base Sequence
  • DNA / genetics*
  • DNA Mutational Analysis
  • Humans
  • Molecular Sequence Data
  • Mucolipidoses / diagnosis*
  • Mucopolysaccharidosis VI / diagnosis*
  • Pedigree
  • Rare Diseases / diagnosis
  • Rare Diseases / genetics

Substances

  • DNA