Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6

J Med Genet. 2000 Nov;37(11):884-6. doi: 10.1136/jmg.37.11.884.
No abstract available

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Cardiac Myosins*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 12 / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Decorin
  • Extracellular Matrix Proteins
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intracellular Signaling Peptides and Proteins
  • Myosin Light Chains / genetics*
  • Noonan Syndrome / genetics*
  • Polymorphism, Genetic
  • Proteins / genetics*
  • Proteoglycans / genetics*
  • Ribosomal Proteins / genetics*

Substances

  • Adaptor Proteins, Signal Transducing
  • DCN protein, human
  • Decorin
  • EPS8 protein, human
  • Extracellular Matrix Proteins
  • Intracellular Signaling Peptides and Proteins
  • Myosin Light Chains
  • Proteins
  • Proteoglycans
  • Ribosomal Proteins
  • myosin light chain 2
  • ribosomal protein L6
  • DNA
  • Cardiac Myosins