Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation

Mol Genet Metab. 2011 Dec;104(4):706-7. doi: 10.1016/j.ymgme.2011.09.031. Epub 2011 Oct 1.
No abstract available

Publication types

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

MeSH terms

  • Amidohydrolases / genetics
  • Canavan Disease / diagnosis*
  • Canavan Disease / genetics*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 17 / genetics
  • Female
  • Gene Dosage
  • Genes, Recessive*
  • Genome-Wide Association Study
  • Humans
  • Mutation, Missense
  • Polymorphism, Single Nucleotide
  • Smith-Magenis Syndrome

Substances

  • Amidohydrolases
  • aspartoacylase

Supplementary concepts

  • Chromosome 17 deletion