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STXBP2 wt Allele

Known as: Hunc18b, unc-18B, MUNC18-2 
Human STXBP2 wild-type allele is located within 19p13.3-p13.2 and is approximately 11 kb in length. This allele, which encodes syntaxin-binding… Expand
National Institutes of Health

Papers overview

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2018
2018
Introduction: Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease affecting the cytotoxic pathway… Expand
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2018
2018
Background & Aims Microvillus inclusion disease (MVID) is a congenital intestinal malabsorption disorder caused by defective… Expand
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2015
2015
Severe chronic active Epstein-Barr virus (CAEBV) disease is defined as a severe progressive illness lasting 6 months or longer… Expand
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2014
2014
The recent article by Mayson et al. on the life-threatening immunoregulatory disorder familial haemophagocytic… Expand
2013
2013
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare primary immune disorder defined by mutations in the syntaxin binding… Expand
2013
2013
Familial hemophagocytic lymphohistiocytosis (FHL) is caused by genetic defects in cytotoxic granule components or their fusion… Expand
Review
2011
Review
2011
  • A. Filipovich
  • Current opinion in allergy and clinical…
  • 2011
  • Corpus ID: 21849640
Purpose of review Hemophagocytic lymphohistiocytosis (HLH) is more widely recognized by clinicians. No longer viewed as a… Expand
2011
2011
Munc18-1 has an important role in neurotransmitter release, and controls every step in the exocytotic pathway in the central… Expand
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2011
2011
ObjectiveMunc18-1 has an important role in neurotransmitter release, and controls every step in the exocytotic pathway in the… Expand
2011
2011
La Lymphohistiocytose Familiale (LHF) est une pathologie immunitaire de transmission autosomique recessive. Elle est caracterisee… Expand