Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

J Inherit Metab Dis. 1994;17(3):267-70. doi: 10.1007/BF00711804.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • Copper Radioisotopes
  • DNA / analysis
  • Fibroblasts / metabolism
  • Genetic Carrier Screening*
  • Humans
  • Menkes Kinky Hair Syndrome / diagnosis
  • Menkes Kinky Hair Syndrome / genetics*
  • Mutation*
  • X Chromosome / ultrastructure

Substances

  • Copper Radioisotopes
  • DNA