Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets

Autosomal recessive mutations in genes required for cytotoxicity are causative of a life-threatening, early-onset hyperinflammatory syndrome termed familial hemophagocytic lymphohistiocytosis (FHL). Mutations in UNC13D cause FHL type 3. UNC13D encodes Munc13-4, a member of the Unc13 protein family w...

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Bibliografische gegevens
Gepubliceerd in:Front Immunol
Hoofdauteurs: Galgano, Donatella, Soheili, Tayebeh, Voss, Matthias, Torralba-Raga, Lamberto, Tesi, Bianca, Cichocki, Frank, Andre, Isabelle, Rettig, Jens, Cavazzana, Marina, Bryceson, Yenan
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2020
Onderwerpen:
Immunology
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7296141/
https://ncbi.nlm.nih.gov/pubmed/32582217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2020.01154
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