A 439 kb-sized homozygous deletion in 17p13.3 leading to biallelic loss of the ASPA as cause of Canavan disease detected by SNP-array analysis

Mol Genet Metab. 2010 Feb;99(2):184-5. doi: 10.1016/j.ymgme.2009.10.011. Epub 2009 Oct 20.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Alleles
  • Amidohydrolases / deficiency*
  • Amidohydrolases / genetics
  • Base Pairing / genetics*
  • Canavan Disease / enzymology
  • Canavan Disease / genetics*
  • Child
  • Chromosomes, Human, Pair 17 / genetics*
  • Exons / genetics
  • Homozygote
  • Humans
  • Male
  • Oligonucleotide Array Sequence Analysis / methods*
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide / genetics*
  • Sequence Deletion / genetics*

Substances

  • Amidohydrolases
  • aspartoacylase