Staff Login Japanese | English
Contact Us
  • List
  • Search
  • Browse
  • Registration
  • Statistics
  1. Home
  2. List
Reference Patent

Reference - List

  • «
  • »
  • 5 Hits
  • Search Condition : Filter (MeSH = Immunologic Deficiency Syndromes / genetics*)
Species Resource RRC ID Title Journal Published Link
Human and Animal Cells NALM-6(RCB1933) 68420 RAG1 splicing mutation causes enhanced B cell differentiation and autoantibody production. JCI Insight 2021-10-8 Pubmed Full text
Human and Animal Cells HCT116(RCB2979) , HCT116-XRCC4(-/-)(RCB2981) 67645 XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency. J Allergy Clin Immunol 2015-10-1 Pubmed Full text
DNA material EGFP-ZBTB24 WT (mouse) (RDB18170) , EGFP-ZBTB24 WT (human) (RDB18184) 61102 Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients. J Hum Genet 2013-7-1 Pubmed Full text
DNA material pEF-mouse T7-Munc13-4 (RDB15181) 49212 Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2. Pigment Cell Melanoma Res 2010-6-1 Pubmed Full text
Human and Animal Cells CTLL-2(RCB0637) , WEHI-3(RCB0035) 39906 Inhibitory effect on natural killer activity of microphthalmia transcription factor encoded by the mutant mi allele of mice. Blood 2001-4-1 Pubmed Full text
National BioResource Project
Copyright : Each Organization participating in NBRP. All Rights Reserved.