Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.


Kiykim A., Garncarz W., Karakoc-Aydiner E. , Ozen A. O. , KIYKIM E., Yesil G., ...More

Clinical immunology (Orlando, Fla.), vol.165, pp.1-3, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Letter
  • Volume: 165
  • Publication Date: 2016
  • Doi Number: 10.1016/j.clim.2016.02.008
  • Title of Journal : Clinical immunology (Orlando, Fla.)
  • Page Numbers: pp.1-3
  • Keywords: 3-Methylglutaconic acid, Microcephaly, Epilepsy, Cataract, Severe congenital neutropenia, CLPB, DISORDER