Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause

Hum Mutat. 2007 Jul;28(7):739-40. doi: 10.1002/humu.20508.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Gene Deletion*
  • Genetic Linkage*
  • Humans
  • Mutation*
  • Pedigree
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastin

Substances

  • Adenosine Triphosphatases
  • Spastin
  • SPAST protein, human