Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient

Research output: Contribution to journalJournal articlepeer-review

  • F Coutinho
  • L da Silva Santos
  • L Lacerda
  • S Quental
  • Flemming Wibrand
  • Lund, Allan Meldgaard
  • K B Johansen
  • M J Prata
  • S Alves
Original languageEnglish
JournalJIMD Reports
Volume4
Pages (from-to)117-124
Number of pages8
DOIs
Publication statusPublished - 2012

ID: 48516585