A de novo deletion in FMR1 in a patient with developmental delay

Hum Mol Genet. 1994 Sep;3(9):1705-6. doi: 10.1093/hmg/3.9.1705.
No abstract available

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • DNA Primers / genetics
  • Developmental Disabilities / genetics*
  • Female
  • Fragile X Syndrome / genetics*
  • Germ-Line Mutation*
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Oligodeoxyribonucleotides / genetics
  • Phenotype
  • Polymerase Chain Reaction
  • Repetitive Sequences, Nucleic Acid
  • Sequence Deletion*

Substances

  • DNA Primers
  • Oligodeoxyribonucleotides

Associated data

  • GENBANK/L29074