Chromosomal microdeletions and genes' functions: a cluster of chromosomal microdeletions and the deleted genes' functions

Eur J Hum Genet. 2007 Oct;15(10):997-8. doi: 10.1038/sj.ejhg.5201894. Epub 2007 Jul 11.
No abstract available

Publication types

  • Comment

MeSH terms

  • Amino Acid Transport Systems, Basic / genetics
  • Amino Acid Transport Systems, Neutral / genetics
  • Chromosome Deletion*
  • Cystinuria / genetics*
  • Homozygote
  • Humans
  • Muscle Hypotonia / genetics*
  • Phenotype
  • Prolyl Oligopeptidases
  • Serine Endopeptidases / genetics
  • Syndrome

Substances

  • Amino Acid Transport Systems, Basic
  • Amino Acid Transport Systems, Neutral
  • SLC3A1 protein, human
  • Serine Endopeptidases
  • PREPL protein, human
  • Prolyl Oligopeptidases