eagle-i Oregon Health & Science UniversityOregon Health & Science University
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Noonan syndrome test

eagle-i ID


Resource Type

  1. Material analysis service


  1. Resource Description
    "Mutation screening using dHPLC to identify sequence changes. Sequence changes are analyzed by direct sequencing to determine the presence of a pathogenic mutation or a benign single nucleotide polymorphism."
  2. Additional Name
    KAAS-Related Noonan Syndrome test
  3. Additional Name
    PTNII-Related Leopard Syndrome test
  4. Additional Name
    PTPNII Mutation Analysis
  5. Additional Name
    PTPNII-Related Noonan Syndrome test
  6. Additional Name
    RAF1-Related Leopard Syndrome test
  7. Additional Name
    RAF1-Related Noonan Syndrome test
  8. Additional Name
    SOS1-Related Noonan Syndrome test
  9. Contact
    Richards, Carolyn Sue, PhD
  10. Service Provided by
    Molecular Diagnostic Center
  11. Website(s)
Provenance Metadata About This Resource Record
Copyright © 2016 by the President and Fellows of Harvard College
The eagle-i Consortium is supported by NIH Grant #5U24RR029825-02 / Copyright 2016