The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism

J Med Genet. 2003 May;40(5):352-6. doi: 10.1136/jmg.40.5.352.
No abstract available

Publication types

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

MeSH terms

  • Autistic Disorder / genetics*
  • Carrier Proteins / genetics*
  • Central Nervous System / metabolism
  • Child, Preschool
  • Chromosomes, Human, Pair 13 / genetics*
  • Chromosomes, Human, Pair 5 / genetics*
  • Exons / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Molecular Sequence Data
  • Nerve Tissue Proteins / genetics*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Sequence Deletion / genetics*
  • Translocation, Genetic / genetics*

Substances

  • Carrier Proteins
  • NBEA protein, human
  • Nerve Tissue Proteins
  • RNA, Messenger

Associated data

  • GENBANK/AC113420
  • GENBANK/AL138690
  • GENBANK/AL161902
  • RefSeq/NM_015678