Molecular diagnosis of severe combined immunodeficiency using whole-exome sequencing

Hong Kong Med J. 2018 Jun;24 Suppl 3(3):15-17.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA-Binding Proteins / genetics
  • Desmoplakins / genetics
  • Exome Sequencing*
  • Guanine Nucleotide Exchange Factors / genetics
  • Humans
  • Mutation
  • Proteins / genetics
  • Severe Combined Immunodeficiency / diagnosis
  • Severe Combined Immunodeficiency / genetics*

Substances

  • DNA-Binding Proteins
  • DSP protein, human
  • Desmoplakins
  • Guanine Nucleotide Exchange Factors
  • Proteins
  • RASGRP1 protein, human
  • TTC7A protein, human