A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient

Hum Mutat. 1996;7(3):266-8. doi: 10.1002/(SICI)1098-1004(1996)7:3<266::AID-HUMU12>3.0.CO;2-0.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Chromosome Banding
  • Dosage Compensation, Genetic
  • Female
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / genetics
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Iduronate Sulfatase / genetics*
  • Intellectual Disability / genetics
  • Leukocytes / chemistry
  • Lymphocytes / chemistry
  • Male
  • Mucopolysaccharidosis II / genetics*
  • Nerve Tissue Proteins / deficiency
  • Nerve Tissue Proteins / genetics*
  • RNA-Binding Proteins*
  • Sequence Deletion*
  • X Chromosome / genetics

Substances

  • FMR1 protein, human
  • Genetic Markers
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein
  • Iduronate Sulfatase